N476D (p.Asn476Asp) variant of OCA2 (P protein)
N476D (p.Asn476Asp) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
N476D (p.Asn476Asp) variant details
- p.Asn476Asp
- rs2548339234
- ClinGen CA391359535
- ClinVar RCV003463225
- ClinVar RCV003553962
- Pathogenic
- not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positi
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.68
- MetaSVM 0.44
- CADD 27.80
- ClinVar: Pathogenic (not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; T)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Structural context available
- Cited in: Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. (PMID 17385796)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)