E49Q (p.Glu49Gln) variant of DDC (P20711)
E49Q (p.Glu49Gln) in DDC (P20711) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available