A11P (p.Ala11Pro) variant of VHL (P40337)
A11P (p.Ala11Pro) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- rs1236604706
- ClinGen CA351747101
- ClinVar RCV000554589
- ClinVar RCV000764457
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.32
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.58
- CADD 22.50
- PolyPhen-2 0.97
- 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 9.9e-07)
- 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)