P79R (p.Pro79Arg) variant of FOXA1 (P55317)
P79R (p.Pro79Arg) 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.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- gnomAD rs1387961059
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -1.13
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)