M48I (p.Met48Ile) variant of FOXA1 (P55317)
M48I (p.Met48Ile) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- Ensembl rs2139184133
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.40
- PolyPhen-2 0.88
- SIFT 0.05
- Population evidence available