R7G (p.Arg7Gly) variant of DDC (P20711)
R7G (p.Arg7Gly) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- ESP rs138828136
- ExAC rs138828136
- TOPMed rs138828136
- gnomAD rs138828136
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available