L53P (p.Leu53Pro) variant of KCNT1 (Q5JUK3)
L53P (p.Leu53Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- gnomAD 9-135714603-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- REVEL 0.03
- CADD 11.60
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available