A20S (p.Ala20Ser) variant of FOXA1 (P55317)
A20S (p.Ala20Ser) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- Ensembl rs2095600683
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -1.02
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.6e-05)