A75V (p.Ala75Val) variant of FOXA1 (P55317)
A75V (p.Ala75Val) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- ExAC rs780802269
- gnomAD rs780802269
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)