G32S (p.Gly32Ser) variant of KCNT1 (Q5JUK3)
G32S (p.Gly32Ser) 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.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs754823810
- gnomAD 9-135702352-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available