P54G (p.Pro54Gly) variant of KCNT1 (Q5JUK3)
P54G (p.Pro54Gly) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P54G (p.Pro54Gly) variant details
- p.Pro54Gly
- gnomAD 9-135714661-G-GGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available