R11M (p.Arg11Met) variant of CACNA1E (Q15878)
R11M (p.Arg11Met) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 69. 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.
R11M (p.Arg11Met) variant details
- p.Arg11Met
- rs767620162
- ClinGen CA1274813
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Uncertain significance
- Developmental and epileptic encephalopathy, 69
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 69)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available