R40C (p.Arg40Cys) variant of KCNT1 (Q5JUK3)
R40C (p.Arg40Cys) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- TOPMed rs1313241319
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 17.00
- Most common in the East Asian population (allele frequency 9.3e-05)
- Structural context available