G34R (p.Gly34Arg) variant of CACNA1E (Q15878)
G34R (p.Gly34Arg) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- TOPMed rs1482505711
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.69
- CADD 26.60
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available