M50I (p.Met50Ile) variant of FOXA1 (P55317)
M50I (p.Met50Ile) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
M50I (p.Met50Ile) variant details
- p.Met50Ile
- ExAC rs752132466
- gnomAD rs752132466
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.10
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)