G50A (p.Gly50Ala) variant of KCNT1 (Q5JUK3)
G50A (p.Gly50Ala) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- gnomAD 9-135714616-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available