R27C (p.Arg27Cys) variant of DDC (P20711)
R27C (p.Arg27Cys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs752474261
- ClinGen CA4262510
- NCI-TCGA Cosmic COSV6356
- cosmic curated COSV63567
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.41
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)