A47V (p.Ala47Val) variant of CACNA1E (Q15878)
A47V (p.Ala47Val) 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 record also includes structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs1383093652
- ClinGen CA343844431
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available