R8W (p.Arg8Trp) variant of KCNT1 (Q5JUK3)
R8W (p.Arg8Trp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs747457929
- gnomAD 9-135702280-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.04
- CADD 17.00
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available