R3L (p.Arg3Leu) variant of CACNA1E (Q15878)
R3L (p.Arg3Leu) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- ExAC rs775240148
- gnomAD rs775240148
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.79
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available