V1188L (p.Val1188Leu) variant of MET (P08581)
V1188L (p.Val1188Leu) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Papillary renal cell carcinoma type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
V1188L (p.Val1188Leu) variant details
- p.Val1188Leu
- rs121913669
- cosmic curated COSV59268
- ExAC rs121913669
- gnomAD rs121913669
- Pathogenic
- Papillary renal cell carcinoma type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.29
- MetaLR 0.11
- MetaSVM -0.86
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic (Papillary renal cell carcinoma type 1)
- EBI: Pathogenic (in RCCP)
- UniProt: Pathogenic (in RCCP)
- Structural context available
- Cited in: Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype. (PMID 10433944)
- Cited in: Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. (PMID 9140397)