G123D (p.Gly123Asp) variant of KCNMA1 (Q12791)
G123D (p.Gly123Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
G123D (p.Gly123Asp) variant details
- p.Gly123Asp
- rs2093865429
- ClinGen CA377412186
- cosmic curated COSV99694
- ClinVar RCV001323888
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.23
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)