V82I (p.Val82Ile) variant of FOXA1 (P55317)
V82I (p.Val82Ile) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- ExAC rs776810070
- gnomAD rs776810070
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.07
- CADD 16.80
- PolyPhen-2 0.30
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)