H108D (p.His108Asp) variant of CALM3 (Calmodulin-3)
H108D (p.His108Asp) in CALM3 (Calmodulin-3) 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 0.53 / 1. The record also includes structural context.
H108D (p.His108Asp) variant details
- p.His108Asp
- rs2139771617
- ClinGen CA390690178
- ClinVar RCV002224275
- Ensembl rs2139771617
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.93
- MetaLR 0.59
- MetaSVM -0.03
- PolyPhen-2 0.02
- MutPred 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available