S40C (p.Ser40Cys) variant of FOXA1 (P55317)
S40C (p.Ser40Cys) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- ESP rs372790088
- ExAC rs372790088
- TOPMed rs372790088
- gnomAD rs372790088
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -0.99
- CADD 24.80
- PolyPhen-2 0.43
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)