G13R (p.Gly13Arg) variant of KCNT1 (Q5JUK3)
G13R (p.Gly13Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs773874266
- gnomAD 9-135702274-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.12
- CADD 16.00
- PolyPhen-2 0.98
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available