G19E (p.Gly19Glu) variant of KCNT1 (Q5JUK3)
G19E (p.Gly19Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- rs146292575
- gnomAD 9-135702317-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.03
- CADD 9.08
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)