R3C (p.Arg3Cys) variant of CACNA1E (Q15878)
R3C (p.Arg3Cys) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs769614151
- ClinGen CA1274807
- NCI-TCGA Cosmic COSV6241
- cosmic curated COSV62412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available