P38H (p.Pro38His) variant of KCNT1 (Q5JUK3)
P38H (p.Pro38His) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P38H (p.Pro38His) variant details
- p.Pro38His
- gnomAD 9-135714582-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.02
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available