P7A (p.Pro7Ala) variant of KCNT1 (Q5JUK3)
P7A (p.Pro7Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs748898708
- gnomAD 9-135702262-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available