R40L (p.Arg40Leu) variant of KCNT1 (Q5JUK3)
R40L (p.Arg40Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- gnomAD 9-135702332-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.05
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available