E124Q (p.Glu124Gln) variant of CALM3 (Calmodulin-3)
E124Q (p.Glu124Gln) in CALM3 (Calmodulin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E124Q (p.Glu124Gln) variant details
- p.Glu124Gln
- Ensembl rs17850324
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- MetaLR 0.20
- MetaSVM -0.75
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available