A4E (p.Ala4Glu) variant of KCNT1 (Q5JUK3)
A4E (p.Ala4Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- rs1044336128
- gnomAD 9-135702278-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- REVEL 0.03
- CADD 11.50
- PolyPhen-2 0.20
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available