M21V (p.Met21Val) variant of DDC (P20711)
M21V (p.Met21Val) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs951039438
- ClinGen CA158234574
- ClinVar RCV001891680
- TOPMed rs951039438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0893
- REVEL 0.12
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)