P30L (p.Pro30Leu) variant of FOXA1 (P55317)
P30L (p.Pro30Leu) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- Ensembl rs2095597279
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)