M89V (p.Met89Val) variant of DDC (P20711)
M89V (p.Met89Val) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M89V (p.Met89Val) variant details
- p.Met89Val
- rs886062376
- ClinGen CA10626216
- cosmic curated COSV63563
- ClinVar RCV000339933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.08
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)