K14E (p.Lys14Glu) variant of CALM2 (Calmodulin-2)
K14E (p.Lys14Glu) in CALM2 (Calmodulin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- gnomAD rs1354288400
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.80
- MetaLR 0.79
- MetaSVM 0.73
- CADD 24.80
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available