A23E (p.Ala23Glu) variant of KCNQ5 (Q9NR82)
A23E (p.Ala23Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- gnomAD 6-72622257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.57
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available