P54C (p.Pro54Cys) variant of KCNT1 (Q5JUK3)
P54C (p.Pro54Cys) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P54C (p.Pro54Cys) variant details
- p.Pro54Cys
- gnomAD 9-135714660-C-CCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available