G29E (p.Gly29Glu) variant of KCNQ5 (Q9NR82)
G29E (p.Gly29Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- gnomAD 6-72622275-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.47
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available