G13W (p.Gly13Trp) variant of KCNT1 (Q5JUK3)
G13W (p.Gly13Trp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G13W (p.Gly13Trp) variant details
- p.Gly13Trp
- gnomAD 9-135702274-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 21.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available