R1443H (p.Arg1443His) variant of ABCA4 (P78363)
R1443H (p.Arg1443His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCA4-related disorder; Retinal dystrophy; Severe early-childhood-onset retinal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1443H (p.Arg1443His) variant details
- p.Arg1443His
- rs61750142
- ClinGen CA227185
- cosmic curated COSV64673
- ClinVar RCV000085631
- Uncertain significance
- ABCA4-related disorder; Retinal dystrophy; Severe early-childhood-onset retinal
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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: Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with… (PMID 20404325)