R40G (p.Arg40Gly) variant of KCNT1 (Q5JUK3)
R40G (p.Arg40Gly) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- gnomAD 9-135702361-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available