L90V (p.Leu90Val) variant of DDC (P20711)
L90V (p.Leu90Val) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L90V (p.Leu90Val) variant details
- p.Leu90Val
- rs771493217
- ClinGen CA4262430
- ClinVar RCV001870352
- ExAC rs771493217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.18
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.40
- 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)