P87L (p.Pro87Leu) variant of DDC (P20711)
P87L (p.Pro87Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- rs746244631
- ClinGen CA4262432
- cosmic curated COSV63564
- ClinVar RCV001250058
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.91
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)