D32E (p.Asp32Glu) variant of DDC (P20711)
D32E (p.Asp32Glu) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- 1000Genomes rs11575290
- ESP rs11575290
- ExAC rs11575290
- TOPMed rs11575290
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.12
- CADD 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available