M50L (p.Met50Leu) variant of FOXA1 (P55317)
M50L (p.Met50Leu) in FOXA1 (P55317) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
M50L (p.Met50Leu) variant details
- p.Met50Leu
- ESP rs140306561
- ExAC rs140306561
- TOPMed rs140306561
- gnomAD rs140306561
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.30
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)