V155A (p.Val155Ala) variant of VHL (P40337)
V155A (p.Val155Ala) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V155A (p.Val155Ala) variant details
- p.Val155Ala
- rs2125130449
- ClinGen CA351756034
- ClinVar RCV002293818
- ClinVar RCV004047631
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.03
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Chuvash p)
- EBI: Likely pathogenic (in VHLD)
- UniProt: Likely pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)