L2S (p.Leu2Ser) variant of FOXA1 (P55317)
L2S (p.Leu2Ser) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
L2S (p.Leu2Ser) variant details
- p.Leu2Ser
- ExAC rs749317547
- gnomAD rs749317547
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.70
- MetaLR 0.92
- MetaSVM 0.49
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)