E101A (p.Glu101Ala) variant of CACNA1A (O00555)
E101A (p.Glu101Ala) 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 0.68 / 1. The record also includes structural context.
E101A (p.Glu101Ala) variant details
- p.Glu101Ala
- rs2060985088
- ClinGen CA404967956
- ClinVar RCV001288837
- Ensembl rs2060985088
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.94
- MetaLR 0.64
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in DEE42)
- UniProt: Uncertain significance (in DEE42)
- Structural context available