D14E (p.Asp14Glu) variant of FOXA1 (P55317)
D14E (p.Asp14Glu) 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.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- Ensembl rs2139188147
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- MetaLR 0.49
- MetaSVM -0.40
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)