R8R (p.Arg8Arg) variant of KCNT1 (Q5JUK3)
R8R (p.Arg8Arg) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 9-135702282-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 4.07
- Population evidence available
- Structural context available
- Literature evidence available