G19R (p.Gly19Arg) variant of KCNT1 (Q5JUK3)
G19R (p.Gly19Arg) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs781519720
- gnomAD 9-135702306-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available