P10L (p.Pro10Leu) variant of KCNT1 (Q5JUK3)
P10L (p.Pro10Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- TOPMed rs1281442772
- gnomAD rs1281442772
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.04
- CADD 9.37
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available