N476S (p.Asn476Ser) variant of OCA2 (P protein)
N476S (p.Asn476Ser) 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 Oculocutaneous albinism; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N476S (p.Asn476Ser) variant details
- p.Asn476Ser
- rs763819379
- ClinGen CA276958
- ClinVar RCV000192364
- ClinVar RCV004689667
- Pathogenic/Likely pathogenic
- Oculocutaneous albinism; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.69
- MetaSVM 0.58
- CADD 26.60
- ClinVar: Pathogenic/Likely pathogenic (Oculocutaneous albinism; Tyrosinase-positive oculocutaneous albi)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)