E124K (p.Glu124Lys) variant of CALM1 (Calmodulin-1)
E124K (p.Glu124Lys) in CALM1 (Calmodulin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- Ensembl rs17850324
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.42
- MetaLR 0.35
- MetaSVM -0.33
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available