P7H (p.Pro7His) variant of KCNT1 (Q5JUK3)
P7H (p.Pro7His) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- rs747733979
- gnomAD 9-135702269-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available