A62V (p.Ala62Val) variant of FOXA1 (P55317)
A62V (p.Ala62Val) in FOXA1 (P55317) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs186148706
- 1000Genomes rs186148706
- ExAC rs186148706
- gnomAD rs186148706
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -0.96
- CADD 22.40
- PolyPhen-2 0.43
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GBR population (allele frequency 0.0057)