E9D (p.Glu9Asp) variant of KCNQ5 (Q9NR82)
E9D (p.Glu9Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- Ensembl rs2154471208
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available