R8G (p.Arg8Gly) variant of KCNT1 (Q5JUK3)
R8G (p.Arg8Gly) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs747457929
- gnomAD 9-135702280-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.02
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available