P54W (p.Pro54Trp) variant of KCNT1 (Q5JUK3)
P54W (p.Pro54Trp) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P54W (p.Pro54Trp) variant details
- p.Pro54Trp
- gnomAD 9-135714660-C-CCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available