Is CRX p.Pro36His (c.107C>A) pathogenic?

CRX p.Pro36His (c.107C>A) is classified Uncertain significance in CRX (ClinVar, No assertion criteria, 1 submitter). AlphaMissense: ambiguous (0.4322); Absent from gnomAD v4.1; Associated with prostate cancer.

What condition is associated with CRX p.Pro36His (c.107C>A)?

CRX p.Pro36His (c.107C>A) is associated with prostate cancer (ClinVar).

How common is CRX p.Pro36His (c.107C>A) in the general population?

CRX p.Pro36His (c.107C>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CRX p.Pro36His (c.107C>A)?

AlphaMissense predicts ambiguous (score 0.4322) — an in-silico prediction, not a clinical call.

CRX p.Pro36His

c.107C>A · rs193920917 · VCV161470

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4322 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

prostate cancer

Computational evidence

Protein change
AlphaMissense	0.4322	ambiguous
REVEL	0.609	indeterminate
SaProt	LLR -12.70	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.2	GERP 0.77, phastCons 1
Regional constraint	o/e 0.89	unconstrained · MANE · 1,933 bp · p 0.26 · regional, not allelic
Overall
CADD	24.4	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CRX
Protein: p.Pro36His
Coding: c.107C>A
MANE Select: NM_000554
dbSNP: rs193920917
Type: single nucleotide variant
Location: chr19:47836249 (GRCh38)
Gene constraint: LOEUF 0.673 · pLI 0.72 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 61.78 · 1 PDB

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

Disease context

prostate cancer — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CRX p.Pro36Ser Uncertain significance ★ ⚠ same residue
CRX c.101-1G>A Pathogenic/Likely pathogenic ★★ same type
CRX p.Arg40Gln Pathogenic/Likely pathogenic ★★ same type
CRX p.Arg40Trp Pathogenic/Likely pathogenic ★★ same type
CRX p.Arg41Gln Pathogenic/Likely pathogenic ★★ same type
CRX p.Arg41Pro Likely pathogenic ★★ same type
CRX p.Arg43Cys Pathogenic ★★ same type
CRX p.Arg43His Pathogenic/Likely pathogenic ★★ same type

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/crx-p-pro36his (accessed [today's date]).

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