A10T (p.Ala10Thr) variant of CACNA1E (Q15878)
A10T (p.Ala10Thr) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- ExAC rs751662861
- TOPMed rs751662861
- gnomAD rs751662861
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available