R2077G (p.Arg2077Gly) variant of ABCA4 (P78363)
R2077G (p.Arg2077Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R2077G (p.Arg2077Gly) variant details
- p.Arg2077Gly
- rs61750645
- ClinGen CA227379
- ClinVar RCV000085796
- ClinVar RCV001074057
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)