P25A (p.Pro25Ala) variant of VHL (P40337)
P25A (p.Pro25Ala) 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 specified; Von Hippel-Lindau syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- rs745338799
- ClinGen CA042053
- ClinVar RCV000465780
- ClinVar RCV002383832
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Von Hippel-Lindau syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.15
- MetaLR 0.34
- MetaSVM -0.73
- CADD 5.78
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Von Hipp)
- EBI: Variant of uncertain significance (in PCC)
- UniProt: Uncertain significance (in PCC)
- 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)