E105K (p.Glu105Lys) variant of CALM2 (Calmodulin-2)
E105K (p.Glu105Lys) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- rs1057523130
- ClinGen CA16606883
- ClinVar RCV000442999
- Ensembl rs1057523130
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.40
- PolyPhen-2 0.97
- MutPred 0.73
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available