V82A (p.Val82Ala) variant of FOXA1 (P55317)
V82A (p.Val82Ala) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
V82A (p.Val82Ala) variant details
- p.Val82Ala
- gnomAD rs1197445288
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.10
- CADD 18.00
- PolyPhen-2 0.38
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)