G19R (p.Gly19Arg) variant of KCNMA1 (Q12791)
G19R (p.Gly19Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs2154572188
- ClinGen CA377412863
- ClinVar RCV001363966
- Ensembl rs2154572188
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.9e-06)