P78L (p.Pro78Leu) variant of KCNMA1 (Q12791)
P78L (p.Pro78Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- rs1760330958
- ClinGen CA377412488
- cosmic curated COSV54256
- ClinVar RCV003031510
- Uncertain significance
- Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.28
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)