E10K (p.Glu10Lys) variant of KCNQ5 (Q9NR82)
E10K (p.Glu10Lys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- gnomAD 6-72622217-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.40
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available