A19V (p.Ala19Val) variant of FH (P07954)
A19V (p.Ala19Val) in FH (P07954) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- Ensembl rs990315199
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.45
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available