A5T (p.Ala5Thr) variant of VHL (P40337)
A5T (p.Ala5Thr) 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; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1559425498
- ClinGen CA351747026
- ClinVar RCV003466536
- ClinVar RCV005515563
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.61
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)