A4V (p.Ala4Val) variant of KCNT1 (Q5JUK3)
A4V (p.Ala4Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1044336128
- gnomAD 9-135702278-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0853
- REVEL 0.04
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available