p.Gly20 Tyr22del variant of KCNT1 (Q5JUK3)
p.Gly20 Tyr22del in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly20 Tyr22del variant details
- gnomAD 9-135702314-GCGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available