E118D (p.Glu118Asp) variant of CACNA1A (O00555)
E118D (p.Glu118Asp) in CACNA1A (O00555) 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 0.54 / 1. The record also includes structural context.
E118D (p.Glu118Asp) variant details
- p.Glu118Asp
- rs2144947250
- ClinGen CA404967840
- ClinVar RCV002263151
- Ensembl rs2144947250
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.10
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available