W188C (p.Trp188Cys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
W188C (p.Trp188Cys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and published literature.
W188C (p.Trp188Cys) variant details
- p.Trp188Cys
- gnomAD 20-22582660-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available