R40P (p.Arg40Pro) variant of KCNT1 (Q5JUK3)
R40P (p.Arg40Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- rs764163914
- gnomAD 9-135702332-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.03
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available