K97R (p.Lys97Arg) variant of CHRNA4 (P43681)
K97R (p.Lys97Arg) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
K97R (p.Lys97Arg) variant details
- p.Lys97Arg
- ExAC rs764421351
- gnomAD rs764421351
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.06
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- UniProt: Uncertain significance
- Population evidence available