G42W (p.Gly42Trp) variant of KCNT1 (Q5JUK3)
G42W (p.Gly42Trp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G42W (p.Gly42Trp) variant details
- p.Gly42Trp
- rs772192320
- gnomAD 9-135714590-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available