P38Q (p.Pro38Gln) variant of KCNT1 (Q5JUK3)
P38Q (p.Pro38Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- 1000Genomes rs547964274
- TOPMed rs547964274
- gnomAD rs547964274
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 16.20
- Population evidence available
- Structural context available