M1131T (p.Met1131Thr) variant of MET (P08581)
M1131T (p.Met1131Thr) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary papillary renal cell carcinoma; Renal cell carcinoma; Hereditary canc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M1131T (p.Met1131Thr) variant details
- p.Met1131Thr
- rs121913668
- ClinGen CA256991
- cosmic curated COSV59261
- ClinVar RCV000014895
- Pathogenic/Likely pathogenic
- Hereditary papillary renal cell carcinoma; Renal cell carcinoma; Hereditary canc
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Hereditary papillary renal cell carcinoma; Renal cell carcinoma;)
- 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)