R187H (p.Arg187His) variant of ABCA4 (P78363)
R187H (p.Arg187His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cone-rod dystrophy 3; Retinitis pigmentosa 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R187H (p.Arg187His) variant details
- p.Arg187His
- rs202198282
- ClinGen CA958815
- ClinVar RCV001091619
- ESP rs202198282
- Pathogenic
- not provided; Cone-rod dystrophy 3; Retinitis pigmentosa 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.58
- MetaLR 0.53
- MetaSVM -0.04
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Pathogenic (not provided; Cone-rod dystrophy 3; Retinitis pigmentosa 19)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available