R48Q (p.Arg48Gln) variant of CACNA1E (Q15878)
R48Q (p.Arg48Gln) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- rs1446954006
- ClinGen CA343844436
- ClinVar RCV003014187
- TOPMed rs1446954006
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 23.70
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available