I10V (p.Ile10Val) variant of CALM1 (Calmodulin-1)
I10V (p.Ile10Val) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, population frequency data, and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- ExAC rs765365900
- gnomAD rs765365900
- Uncertain significance
- not provided
- Missense
- MetaLR 0.50
- MetaSVM -0.17
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available