R40S (p.Arg40Ser) variant of KCNT1 (Q5JUK3)
R40S (p.Arg40Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- gnomAD 9-135714577-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available