A45T (p.Ala45Thr) variant of DDC (P20711)
A45T (p.Ala45Thr) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs755313812
- ClinGen CA4262490
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- REVEL 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)