W188S (p.Trp188Ser) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
W188S (p.Trp188Ser) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
W188S (p.Trp188Ser) variant details
- p.Trp188Ser
- gnomAD 20-22582661-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available