G26D (p.Gly26Asp) variant of CALM1 (Calmodulin-1)
G26D (p.Gly26Asp) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs1971785540
- ClinGen CA406471820
- ClinVar RCV002409903
- ClinVar RCV005620448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available