S22R (p.Ser22Arg) variant of MET (P08581)
S22R (p.Ser22Arg) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma. 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.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs773018125
- ClinGen CA4447938
- ClinVar RCV002676310
- ExAC rs773018125
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.17
- MetaLR 0.30
- MetaSVM -0.62
- CADD 15.20
- PolyPhen-2 0.19
- SIFT 0.33
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)