S788L (p.Ser788Leu) variant of OCA2 (P protein)
S788L (p.Ser788Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of OCA2-related disorder; Oculocutaneous albinism; Tyrosinase-positive oculocutaneo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S788L (p.Ser788Leu) variant details
- p.Ser788Leu
- rs147736385
- ClinGen CA7438595
- ClinVar RCV000851380
- ClinVar RCV001578073
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Oculocutaneous albinism; Tyrosinase-positive oculocutaneo
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.63
- MetaSVM 0.30
- CADD 28.50
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Oculocutaneous albinism; Tyrosinase-posit)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)