G19D (p.Gly19Asp) variant of KCNT1 (Q5JUK3)
G19D (p.Gly19Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- Ensembl rs1830355785
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 10.60
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available