G43S (p.Gly43Ser) variant of KCNT1 (Q5JUK3)
G43S (p.Gly43Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- rs773228285
- gnomAD 9-135714596-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.14
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available