E9G (p.Glu9Gly) variant of KCNQ5 (Q9NR82)
E9G (p.Glu9Gly) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- gnomAD 6-72622215-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available