P30S (p.Pro30Ser) variant of FOXA1 (P55317)
P30S (p.Pro30Ser) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD rs1344315520
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -0.98
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)