A4G (p.Ala4Gly) variant of KCNT1 (Q5JUK3)
A4G (p.Ala4Gly) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- rs757568103
- gnomAD 9-135702277-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 18.50
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available
- Literature evidence available