R25Q (p.Arg25Gln) variant of CACNA1E (Q15878)
R25Q (p.Arg25Gln) in CACNA1E (Q15878) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs1227533595
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- TOPMed rs1227533595
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.50
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available