I131L (p.Ile131Leu) variant of CALM2 (Calmodulin-2)
I131L (p.Ile131Leu) in CALM2 (Calmodulin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I131L (p.Ile131Leu) variant details
- p.Ile131Leu
- gnomAD rs1375374729
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.32
- MetaLR 0.31
- MetaSVM -0.40
- CADD 22.80
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available