V155M (p.Val155Met) variant of VHL (P40337)
V155M (p.Val155Met) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V155M (p.Val155Met) variant details
- p.Val155Met
- rs869025659
- ClinGen CA357026
- NCI-TCGA Cosmic COSV5654
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.77
- MetaLR 0.98
- MetaSVM 1.04
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.49
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)