A91E (p.Ala91Glu) variant of DDC (P20711)
A91E (p.Ala91Glu) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AADCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A91E (p.Ala91Glu) variant details
- p.Ala91Glu
- cosmic curated COSV63564
- ExAC rs137853211
- TOPMed rs137853211
- gnomAD rs137853211
- Pathogenic
- in AADCD
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Pathogenic (in AADCD)
- UniProt: Pathogenic (in AADCD)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available