R11K (p.Arg11Lys) variant of CACNA1E (Q15878)
R11K (p.Arg11Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
R11K (p.Arg11Lys) variant details
- p.Arg11Lys
- ExAC rs767620162
- TOPMed rs767620162
- gnomAD rs767620162
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.49
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available