R1443C (p.Arg1443Cys) variant of ABCA4 (P78363)
R1443C (p.Arg1443Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R1443C (p.Arg1443Cys) variant details
- p.Arg1443Cys
- rs533422156
- ClinGen CA957651
- ClinVar RCV002014925
- ClinVar RCV004816862
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.84
- MetaLR 0.91
- MetaSVM 1.01
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)