R220C (p.Arg220Cys) variant of ABCA4 (P78363)
R220C (p.Arg220Cys) 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; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R220C (p.Arg220Cys) variant details
- p.Arg220Cys
- rs61748538
- ClinGen CA227420
- NCI-TCGA Cosmic COSV6467
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.57
- MetaLR 0.62
- MetaSVM -0.38
- CADD 18.90
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- 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: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)