G43A (p.Gly43Ala) variant of KCNT1 (Q5JUK3)
G43A (p.Gly43Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- gnomAD 9-135714597-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.09
- CADD 9.97
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available