P54P (p.Pro54Pro) variant of KCNT1 (Q5JUK3)
P54P (p.Pro54Pro) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P54P (p.Pro54Pro) variant details
- p.Pro54Pro
- gnomAD 9-135714655-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available