R8Q (p.Arg8Gln) variant of KCNT1 (Q5JUK3)
R8Q (p.Arg8Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD 9-135702281-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0659
- REVEL 0.04
- CADD 6.36
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available