Q20R (p.Gln20Arg) variant of MET (P08581)
Q20R (p.Gln20Arg) in MET (P08581) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- Ensembl rs2116579182
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.10
- MetaLR 0.21
- MetaSVM -0.96
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available