Is MFRP p.Pro24= (c.72T>C) pathogenic?

MFRP p.Pro24= (c.72T>C) is classified Benign/Likely benign in MFRP (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-17). Low-frequency (popmax 1.07%, afr); Associated with isolated microphthalmia 5.

What condition is associated with MFRP p.Pro24= (c.72T>C)?

MFRP p.Pro24= (c.72T>C) is associated with isolated microphthalmia 5 (ClinVar).

How common is MFRP p.Pro24= (c.72T>C) in the general population?

MFRP p.Pro24= (c.72T>C) is low-frequency (popmax 1.07%, afr) (gnomAD).

MFRP p.Pro24=

Q: How is Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.72T>C · rs77225944 · VCV707450

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.07%, afr)

Conditions

isolated microphthalmia 5

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.017	GERP -0.68, phastCons 0.064
Overall
CADD	8.389	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.07% African / African-American · 800/75,026 alleles

Filtering AF 1.01% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.981%

Overall 0.06% 969/1,614,078 alleles · low-frequency exomes 447/1,461,812 · genomes 522/152,266 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.07%	94
Admixed American	0.15%	667
Remaining individualsnot grpmax-eligible	0.0944%	1,059
Middle Eastern	0.0825%	1,212
South Asian	0.0022%	45,542
European (non-Finnish)	0.0011%	90,768

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: MFRP
Protein: p.Pro24=
Coding: c.72T>C
MANE Select: NM_031433
dbSNP: rs77225944
Type: single nucleotide variant
Location: chr11:119346357 (GRCh38)

Full MFRP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

isolated microphthalmia 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adult

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mfrp-p-pro24 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown