R20S (p.Arg20Ser) variant of MERTK (Tyrosine-protein kinase Mer)
R20S (p.Arg20Ser) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- rs35898499
- ClinGen CA148491
- cosmic curated COSV54924
- ClinVar RCV000081391
- Conflicting interpretations
- not specified; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.06
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Retinitis pigmentosa)
- EBI: Benign (in dbSNP:rs35898499)
- UniProt: Benign (in dbSNP:rs35898499)
- Most common in the HGDP:TUSCAN population (allele frequency 0.19)
- Structural context available
- Cited in: Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. (PMID 11062461)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)