R844C (p.Arg844Cys) variant of MERTK (Tyrosine-protein kinase Mer)
R844C (p.Arg844Cys) 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; not provided; Retinitis pigmentosa 38. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R844C (p.Arg844Cys) variant details
- p.Arg844Cys
- rs746291728
- ClinGen CA1831920
- cosmic curated COSV10640
- ClinVar RCV000986798
- Pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 38
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.79
- MetaLR 0.91
- MetaSVM 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 38)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)