R91H (p.Arg91His) variant of CALM3 (Calmodulin-3)
R91H (p.Arg91His) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
R91H (p.Arg91His) variant details
- p.Arg91His
- gnomAD rs1971794358
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.68
- MetaLR 0.67
- MetaSVM 0.40
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available