M13I (p.Met13Ile) variant of DDC (P20711)
M13I (p.Met13Ile) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs2044724081
- ClinGen CA367532259
- ClinVar RCV001953946
- TOPMed rs2044724081
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.35
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)