S13R (p.Ser13Arg) variant of FOXA1 (P55317)
S13R (p.Ser13Arg) 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.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- gnomAD rs1249735550
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.29
- MetaLR 0.54
- MetaSVM -0.50
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)