A111E (p.Ala111Glu) variant of WWTR1 (Q9GZV5)
A111E (p.Ala111Glu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A111E (p.Ala111Glu) variant details
- p.Ala111Glu
- ESP rs372365663
- ExAC rs372365663
- TOPMed rs372365663
- gnomAD rs372365663
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available