A83D (p.Ala83Asp) variant of FOXA1 (P55317)
A83D (p.Ala83Asp) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A83D (p.Ala83Asp) variant details
- p.Ala83Asp
- TOPMed rs1206030230
- gnomAD rs1206030230
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)