L41M (p.Leu41Met) variant of DDC (P20711)
L41M (p.Leu41Met) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- rs748932346
- ClinGen CA4262493
- ClinVar RCV000223965
- ClinVar RCV000692942
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)