M34I (p.Met34Ile) variant of FOXA1 (P55317)
M34I (p.Met34Ile) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
M34I (p.Met34Ile) variant details
- p.Met34Ile
- TOPMed rs1375221568
- gnomAD rs1375221568
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- MetaLR 0.77
- MetaSVM 0.73
- CADD 25.70
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)