G26D (p.Gly26Asp) variant of CALM3 (Calmodulin-3)
G26D (p.Gly26Asp) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 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
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.85
- MetaLR 0.89
- MetaSVM 0.98
- CADD 28.70
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available