G50V (p.Gly50Val) variant of KCNT1 (Q5JUK3)
G50V (p.Gly50Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 9-135714618-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available