M86L (p.Met86Leu) variant of KCNMA1 (Q12791)
M86L (p.Met86Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data.
M86L (p.Met86Leu) variant details
- p.Met86Leu
- ExAC rs754652887
- gnomAD rs754652887
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.20
- SIFT 0.90
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)