G19S (p.Gly19Ser) variant of KCNT1 (Q5JUK3)
G19S (p.Gly19Ser) in KCNT1 (Q5JUK3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases; Autosomal dominant nocturnal frontal lobe epilepsy 5; D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- TOPMed rs1034344762
- gnomAD rs1034344762
- Likely benign
- Inborn genetic diseases; Autosomal dominant nocturnal frontal lobe epilepsy 5; D
- Missense
- Variant Prioritization Score for Impact Estimate 0.0518
- REVEL 0.03
- CADD 2.91
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Likely benign (Inborn genetic diseases; Autosomal dominant nocturnal frontal lo)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available