P81L (p.Pro81Leu) variant of DDC (P20711)
P81L (p.Pro81Leu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs935725316
- ClinGen CA158234091
- ClinVar RCV002223079
- Ensembl rs935725316
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)