A83V (p.Ala83Val) variant of FOXA1 (P55317)
A83V (p.Ala83Val) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- TOPMed rs1206030230
- gnomAD rs1206030230
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.04
- CADD 23.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)