S44P (p.Ser44Pro) variant of KCNT1 (Q5JUK3)
S44P (p.Ser44Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- Ensembl rs1830359066
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 18.40
- Population evidence available
- Structural context available