A15V (p.Ala15Val) variant of KCNT1 (Q5JUK3)
A15V (p.Ala15Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs377687237
- gnomAD 9-135702308-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.01
- CADD 4.55
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available