K112N (p.Lys112Asn) variant of KCNMA1 (Q12791)
K112N (p.Lys112Asn) 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 0.31 / 1.
K112N (p.Lys112Asn) variant details
- p.Lys112Asn
- rs748112495
- ClinGen CA377412261
- ClinVar RCV001977743
- ExAC rs748112495
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.78
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.47
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely benign
- UniProt: Likely benign