G13A (p.Gly13Ala) variant of KCNT1 (Q5JUK3)
G13A (p.Gly13Ala) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 9-135702287-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 10.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available