N949S (p.Asn949Ser) variant of KCNMA1 (Q12791)
N949S (p.Asn949Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1.
N949S (p.Asn949Ser) variant details
- p.Asn949Ser
- rs1565091862
- ClinGen CA377405323
- ClinVar RCV000710351
- Ensembl rs1565091862
- Likely pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.67
- MetaLR 0.40
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic