A56P (p.Ala56Pro) variant of CACNA1D (Q01668)
A56P (p.Ala56Pro) in CACNA1D (Q01668) 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 0.84 / 1. The record also includes structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- rs2107070138
- ClinGen CA353381880
- ClinVar RCV001751922
- Ensembl rs2107070138
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available