A21V (p.Ala21Val) variant of FH (P07954)
A21V (p.Ala21Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1131691251
- ClinGen CA345442891
- ClinVar RCV002268582
- ClinVar RCV002361145
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.40
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)