A15T (p.Ala15Thr) variant of VHL (P40337)
A15T (p.Ala15Thr) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs1060503568
- ClinGen CA16611060
- ClinVar RCV000457623
- ClinVar RCV002329080
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.08
- MetaLR 0.34
- MetaSVM -0.68
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)