A5P (p.Ala5Pro) variant of VHL (P40337)
A5P (p.Ala5Pro) 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; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- rs1559425498
- ClinGen CA351747027
- ClinVar RCV000685222
- Ensembl rs1559425498
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- 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; V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)