A22E (p.Ala22Glu) variant of KCNQ5 (Q9NR82)
A22E (p.Ala22Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- gnomAD 6-72622254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.45
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available