F505S (p.Phe505Ser) variant of OCA2 (P protein)
F505S (p.Phe505Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F505S (p.Phe505Ser) variant details
- p.Phe505Ser
- rs753721437
- ClinGen CA7439003
- ClinVar RCV003679950
- ClinVar RCV006455708
- Likely pathogenic
- not provided; Oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.99
- CADD 27.90
- ClinVar: Likely pathogenic (not provided; Oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)