L53W (p.Leu53Trp) variant of KCNT1 (Q5JUK3)
L53W (p.Leu53Trp) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L53W (p.Leu53Trp) variant details
- p.Leu53Trp
- gnomAD 9-135714603-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available