A23V (p.Ala23Val) variant of FH (P07954)
A23V (p.Ala23Val) in FH (P07954) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs2147926968
- ClinGen CA345442837
- ClinVar RCV002555419
- ClinVar RCV003167101
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 1.20
- PolyPhen-2 0.03
- SIFT 0.14
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)