G42V (p.Gly42Val) variant of KCNT1 (Q5JUK3)
G42V (p.Gly42Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- gnomAD 9-135714591-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 19.20
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available