N1053S (p.Asn1053Ser) variant of KCNMA1 (Q12791)
N1053S (p.Asn1053Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome; Epileptic enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature.
N1053S (p.Asn1053Ser) variant details
- p.Asn1053Ser
- rs886039469
- ClinGen CA10588480
- ClinVar RCV000255423
- ClinVar RCV000504575
- Pathogenic
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome; Epileptic enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.57
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Pathogenic (in PNKD3 and EIG16)
- UniProt: Pathogenic (in PNKD3 and EIG16)
- Cited in: De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. (PMID 26195193)
- Cited in: De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity. (PMID 29330545)