T42R (p.Thr42Arg) variant of CACNA1E (Q15878)
T42R (p.Thr42Arg) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- TOPMed rs1284141306
- gnomAD rs1284141306
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.49
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available