N998S (p.Asn998Ser) variant of KCNMA1 (Q12791)
N998S (p.Asn998Ser) 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; Epileptic enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
N998S (p.Asn998Ser) variant details
- p.Asn998Ser
- rs2052158751
- ClinGen CA377404267
- ClinVar RCV001257264
- Ensembl rs2052158751
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome; Epileptic enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)