I131M (p.Ile131Met) variant of CALM2 (Calmodulin-2)
I131M (p.Ile131Met) in CALM2 (Calmodulin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I131M (p.Ile131Met) variant details
- p.Ile131Met
- gnomAD 2-47161751-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.86
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available