S86R (p.Ser86Arg) variant of OCA2 (P protein)
S86R (p.Ser86Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S86R (p.Ser86Arg) variant details
- p.Ser86Arg
- rs772243109
- UniProt VAR 006118
- Ensembl rs772243109
- Pathogenic
- in OCA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.64
- MetaSVM -0.28
- CADD 17.21
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)