A20V (p.Ala20Val) variant of FH (P07954)
A20V (p.Ala20Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs1573889953
- ClinGen CA345442915
- ClinVar RCV001024776
- ClinVar RCV001832358
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.36
- AlphaMissense 0.12
- MetaLR 0.87
- MetaSVM 0.73
- CADD 12.30
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)