T352A (p.Thr352Ala) variant of KCNMA1 (Q12791)
T352A (p.Thr352Ala) 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 0.95 / 1.
T352A (p.Thr352Ala) variant details
- p.Thr352Ala
- rs863224885
- ClinGen CA279039
- ClinVar RCV000200082
- Ensembl rs863224885
- Likely pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic