P30R (p.Pro30Arg) variant of FOXA1 (P55317)
P30R (p.Pro30Arg) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- Ensembl rs2095597279
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.12
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)