G50R (p.Gly50Arg) variant of KCNT1 (Q5JUK3)
G50R (p.Gly50Arg) 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.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs148808978
- gnomAD 9-135714617-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0746
- REVEL 0.04
- CADD 9.82
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available