A38P (p.Ala38Pro) variant of KCNMA1 (Q12791)
A38P (p.Ala38Pro) 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 0.54 / 1. The record also includes population frequency data.
A38P (p.Ala38Pro) variant details
- p.Ala38Pro
- rs767099267
- ClinGen CA377412738
- ClinVar RCV001935416
- ExAC rs767099267
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.44
- SIFT 0.00
- 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 9.4e-07)