A104V (p.Ala104Val) variant of CALM2 (Calmodulin-2)
A104V (p.Ala104Val) in CALM2 (Calmodulin-2) 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 0.50 / 1. The record also includes population frequency data and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- rs11551437
- ClinGen CA46690850
- ClinVar RCV002320471
- Ensembl rs11551437
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.39
- MetaLR 0.26
- MetaSVM -0.58
- CADD 25.40
- PolyPhen-2 0.02
- SIFT 0.00
- 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