D96G (p.Asp96Gly) variant of CALM3 (Calmodulin-3)
D96G (p.Asp96Gly) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
D96G (p.Asp96Gly) variant details
- p.Asp96Gly
- rs2139771574
- ClinGen CA390690101
- ClinVar RCV002211276
- Ensembl rs2139771574
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.83
- MetaLR 0.20
- MetaSVM -0.69
- PolyPhen-2 0.53
- MutPred 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available