N489D (p.Asn489Asp) variant of OCA2 (P protein)
N489D (p.Asn489Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N489D (p.Asn489Asp) variant details
- p.Asn489Asp
- rs121918170
- ClinGen CA251640
- ClinVar RCV000001012
- ClinVar RCV000413429
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Oculocutaneous albinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.90
- MetaSVM 1.03
- CADD 27.10
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Oculocutaneous albinism; not provided)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Non-Finnish European population (allele frequency 0.00071)
- Structural context available
- Cited in: MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (PMID 12876664)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)