G20D (p.Gly20Asp) variant of KCNMA1 (Q12791)
G20D (p.Gly20Asp) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs888320237
- ClinGen CA210159560
- ClinVar RCV001295223
- ClinVar RCV003456487
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)