G780D (p.Gly780Asp) variant of OCA2 (P protein)
G780D (p.Gly780Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G780D (p.Gly780Asp) variant details
- p.Gly780Asp
- rs141949212
- ClinGen CA7438605
- ClinVar RCV000500809
- ClinVar RCV000505060
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Oculocutaneous albinism; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.83
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Oculocutaneous albinism; Inborn genetic d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00065)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)