A47T (p.Ala47Thr) variant of CACNA1E (Q15878)
A47T (p.Ala47Thr) 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 0.78 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- rs1161110769
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- gnomAD rs1161110769
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.77
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available