A9V (p.Ala9Val) variant of FH (P07954)
A9V (p.Ala9Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- TOPMed rs766915154
- gnomAD rs766915154
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available