Q41R (p.Gln41Arg) variant of CACNA1E (Q15878)
Q41R (p.Gln41Arg) in CACNA1E (Q15878) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- ExAC rs773295315
- TOPMed rs773295315
- gnomAD rs773295315
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.81
- CADD 27.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available