A31V (p.Ala31Val) variant of FH (P07954)
A31V (p.Ala31Val) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs876659347
- ClinGen CA10577691
- ClinVar RCV000219137
- ClinVar RCV002519693
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.39
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 1.04
- CADD 9.82
- PolyPhen-2 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)