E12V (p.Glu12Val) variant of KCNT1 (Q5JUK3)
E12V (p.Glu12Val) 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.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- rs755980218
- gnomAD 9-135702305-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.03
- CADD 7.84
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available