R21K (p.Arg21Lys) variant of MET (P08581)
R21K (p.Arg21Lys) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Renal cell carcinoma; Autosomal recessive nonsyndromic hearing los. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- rs964356368
- ClinGen CA164887698
- ClinVar RCV002255940
- ClinVar RCV003094229
- Conflicting interpretations
- not provided; Renal cell carcinoma; Autosomal recessive nonsyndromic hearing los
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.05
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal cell carcinoma; Autosomal recessive nonsyndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)