A45V (p.Ala45Val) variant of DDC (P20711)
A45V (p.Ala45Val) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs2044718776
- ClinGen CA367531809
- cosmic curated COSV63564
- ClinVar RCV001298767
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- CADD 13.90
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)