G32V (p.Gly32Val) variant of KCNT1 (Q5JUK3)
G32V (p.Gly32Val) 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.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs1588238987
- gnomAD 9-135702353-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- CADD 17.00
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available