M65I (p.Met65Ile) variant of DDC (P20711)
M65I (p.Met65Ile) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M65I (p.Met65Ile) variant details
- p.Met65Ile
- rs1331036250
- ClinGen CA367531269
- ClinVar RCV003115657
- TOPMed rs1331036250
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)