G13V (p.Gly13Val) variant of KCNT1 (Q5JUK3)
G13V (p.Gly13Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 9-135702275-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- CADD 20.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available