A32V (p.Ala32Val) variant of FH (P07954)
A32V (p.Ala32Val) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs2147926910
- ClinGen CA345442720
- ClinVar RCV002553578
- ClinVar RCV004946833
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.73
- PolyPhen-2 0.01
- SIFT 0.17
- MutPred 0.24
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)