L53V (p.Leu53Val) variant of KCNT1 (Q5JUK3)
L53V (p.Leu53Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- rs869312682
- gnomAD 9-135714602-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.05
- CADD 7.60
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available