V109I (p.Val109Ile) variant of CALM2 (Calmodulin-2)
V109I (p.Val109Ile) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V109I (p.Val109Ile) variant details
- p.Val109Ile
- rs1199451414
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- gnomAD rs1199451414
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.21
- MetaLR 0.69
- MetaSVM 0.25
- PolyPhen-2 0.09
- MutPred 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available