A38T (p.Ala38Thr) variant of KCNMA1 (Q12791)
A38T (p.Ala38Thr) 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 0.48 / 1. The record also includes population frequency data.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs767099267
- ClinGen CA5568808
- NCI-TCGA Cosmic COSV5424
- cosmic curated COSV54243
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.17
- 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)