V1092I (p.Val1092Ile) variant of MET (P08581)
V1092I (p.Val1092Ile) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome; Papillary renal c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V1092I (p.Val1092Ile) variant details
- p.Val1092Ile
- rs786202724
- ClinGen CA193972
- NCI-TCGA Cosmic COSV5925
- cosmic curated COSV59257
- Pathogenic/Likely pathogenic
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome; Papillary renal c
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.51
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.38
- CADD 27.80
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Renal cell carcinoma; Hereditary cancer-predisposing syndrome; P)
- EBI: Pathogenic (in RCCP)
- UniProt: Pathogenic (in RCCP)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Novel mutations of the MET proto-oncogene in papillary renal carcinomas. (PMID 10327054)
- Cited in: Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family. (PMID 10417759)