H1094R (p.His1094Arg) variant of MET (P08581)
H1094R (p.His1094Arg) 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; Osteofibrous dysplasia; Hepatocellular carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H1094R (p.His1094Arg) variant details
- p.His1094Arg
- rs121913243
- ClinGen CA221506
- cosmic curated COSV59257
- ClinVar RCV000014901
- Pathogenic/Likely pathogenic
- Renal cell carcinoma; Osteofibrous dysplasia; Hepatocellular carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- AlphaMissense 0.98
- MetaLR 0.15
- MetaSVM -0.85
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Renal cell carcinoma; Osteofibrous dysplasia; Hepatocellular car)
- EBI: Pathogenic (in RCCP)
- UniProt: Pathogenic (in RCCP)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype. (PMID 10433944)
- Cited in: Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET… (PMID 9563489)