G42R (p.Gly42Arg) variant of KCNT1 (Q5JUK3)
G42R (p.Gly42Arg) in KCNT1 (Q5JUK3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal dominant nocturnal frontal lobe epilepsy 5; Developmental and epilepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- TOPMed rs1830358561
- Uncertain significance
- Autosomal dominant nocturnal frontal lobe epilepsy 5; Developmental and epilepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.10
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Autosomal dominant nocturnal frontal lobe epilepsy 5; Developmen)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available