G782R (p.Gly782Arg) variant of OCA2 (P protein)
G782R (p.Gly782Arg) 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; not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE. 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.
G782R (p.Gly782Arg) variant details
- p.Gly782Arg
- rs797045839
- ClinGen CA277156
- cosmic curated COSV10525
- ClinVar RCV000193498
- Pathogenic/Likely pathogenic
- OCA2-related disorder; not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.81
- CADD 28.00
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; not provided; SKIN/HAIR/EYE PIGMENTATION)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.3e-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)