E54K (p.Glu54Lys) variant of DDC (P20711)
E54K (p.Glu54Lys) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- ExAC rs760546215
- gnomAD rs760546215
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.16
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available