R40K (p.Arg40Lys) variant of KCNT1 (Q5JUK3)
R40K (p.Arg40Lys) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- gnomAD 9-135702368-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available