D119N (p.Asp119Asn) variant of CALM3 (Calmodulin-3)
D119N (p.Asp119Asn) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 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
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.38
- MetaLR 0.47
- MetaSVM -0.02
- CADD 25.20
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (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