A2T (p.Ala2Thr) variant of KCNMA1 (Q12791)
A2T (p.Ala2Thr) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1344908173
- ClinGen CA377412960
- ClinVar RCV001301840
- ClinVar RCV005414592
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.30
- MetaLR 0.29
- MetaSVM -0.75
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)