T125M (p.Thr125Met) variant of KCNMA1 (Q12791)
T125M (p.Thr125Met) 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 0.34 / 1. The record also includes population frequency data.
T125M (p.Thr125Met) variant details
- p.Thr125Met
- rs2154572092
- ClinGen CA377412174
- ClinVar RCV001863582
- Ensembl rs2154572092
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.26
- 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 1.8e-06)