C112F (p.Cys112Phe) variant of OCA2 (P protein)
C112F (p.Cys112Phe) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in OCA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C112F (p.Cys112Phe) variant details
- p.Cys112Phe
- rs562649990
- UniProt VAR 006119
- ExAC rs562649990
- TOPMed rs562649990
- Pathogenic
- in OCA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.66
- CADD 1.84
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205.… (PMID 10671067)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)