R40W (p.Arg40Trp) variant of KCNT1 (Q5JUK3)
R40W (p.Arg40Trp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs775807509
- gnomAD 9-135702331-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- CADD 16.50
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available