S27A (p.Ser27Ala) variant of FOXA1 (P55317)
S27A (p.Ser27Ala) in FOXA1 (P55317) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
S27A (p.Ser27Ala) variant details
- p.Ser27Ala
- ExAC rs763040361
- TOPMed rs763040361
- gnomAD rs763040361
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.09
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)