D119N (p.Asp119Asn) variant of CALM2 (Calmodulin-2)
D119N (p.Asp119Asn) in CALM2 (Calmodulin-2) 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 0.49 / 1. The record also includes population frequency data and structural context.
D119N (p.Asp119Asn) variant details
- p.Asp119Asn
- rs2122249750
- ClinGen CA406473271
- ClinVar RCV002454925
- Ensembl rs2122249750
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.74
- MetaLR 0.47
- MetaSVM -0.02
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available