R844H (p.Arg844His) variant of MERTK (Tyrosine-protein kinase Mer)
R844H (p.Arg844His) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 38; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R844H (p.Arg844His) variant details
- p.Arg844His
- rs746671363
- ClinGen CA1831921
- ClinVar RCV003827611
- ClinVar RCV004818423
- Pathogenic
- Retinal dystrophy; Retinitis pigmentosa 38; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; Retinitis pigmentosa 38; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available