D130V (p.Asp130Val) variant of CALM2 (Calmodulin-2)
D130V (p.Asp130Val) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT15. The record also includes variant effect predictions, published literature, and structural context.
D130V (p.Asp130Val) variant details
- p.Asp130Val
- UniProt VAR 078262
- Pathogenic
- in LQT15
- Missense
- MetaLR 0.82
- MetaSVM 0.80
- SIFT 0.00
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- Structural context available
- Cited in: Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional… (PMID 26969752)
- Cited in: Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID 23388215)