E61D (p.Glu61Asp) variant of DDC (P20711)
E61D (p.Glu61Asp) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- rs11575292
- ClinGen CA4262475
- cosmic curated COSV99058
- ClinVar RCV000224139
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.09
- SIFT 0.10
- EBI: Benign (in dbSNP:rs11575292)
- UniProt: Benign (in dbSNP:rs11575292)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)