S360F (p.Ser360Phe) variant of OCA2 (P protein)
S360F (p.Ser360Phe) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oculocutaneous albinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S360F (p.Ser360Phe) variant details
- p.Ser360Phe
- rs2548363498
- ClinGen CA391362372
- ClinVar RCV003727144
- ClinVar RCV005407240
- Pathogenic
- Oculocutaneous albinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.87
- MetaSVM 0.89
- CADD 25.70
- ClinVar: Pathogenic (Oculocutaneous albinism; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)