I10V (p.Ile10Val) variant of CALM2 (Calmodulin-2)
I10V (p.Ile10Val) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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
- Missense
- MetaLR 0.70
- MetaSVM 0.43
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available