G32C (p.Gly32Cys) variant of KCNT1 (Q5JUK3)
G32C (p.Gly32Cys) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- rs754823810
- gnomAD 9-135702352-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.05
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Literature evidence available