K27R (p.Lys27Arg) variant of MET (P08581)
K27R (p.Lys27Arg) 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 0.11 / 1. The record also includes population frequency data and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- rs2485505028
- ClinGen CA2580076236
- ClinVar RCV003033050
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -1.00
- CADD 8.59
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available