Is FTH1 p.Pro162= (c.486C>T) pathogenic?

FTH1 p.Pro162= (c.486C>T) is classified Benign in FTH1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-17). Rare (popmax 0.134%, eas).

How common is FTH1 p.Pro162= (c.486C>T) in the general population?

FTH1 p.Pro162= (c.486C>T) is rare (popmax 0.134%, eas) (gnomAD).

FTH1 p.Pro162=

c.486C>T · rs371388537 · VCV2057102

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.134%, eas)

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 -5.6	GERP -4.8
Overall
CADD	0.564	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.134% East Asian · 60/44,884 alleles

Filtering AF 0.107% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0968%

Overall 0.00469% 75/1,599,970 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.134%	748
Remaining individualsnot grpmax-eligible	0.00641%	15,606
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,608
Admixed American	0.00167%	60,016
African / African-American	0.00133%	75,026
South Asian	0.0011%	91,088
European (non-Finnish)	0.000593%	168,567

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: FTH1
Protein: p.Pro162=
Coding: c.486C>T
MANE Select: NM_004183 · reported on NM_002032
dbSNP: rs371388537
Type: single nucleotide variant
Location: chr11:61964793 (GRCh38)

Full FTH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/fth1-p-pro162 (accessed [today's date]).

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