P38A (p.Pro38Ala) variant of KCNT1 (Q5JUK3)
P38A (p.Pro38Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- gnomAD 9-135714581-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available