N32K (p.Asn32Lys) variant of KCNMA1 (Q12791)
N32K (p.Asn32Lys) 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 0.50 / 1. The record also includes population frequency data.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- rs749212119
- ClinGen CA5568812
- ClinVar RCV001975693
- ExAC rs749212119
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.35
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available