R27H (p.Arg27His) variant of DDC (P20711)
R27H (p.Arg27His) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs781573378
- ClinGen CA4262509
- NCI-TCGA Cosmic COSV6356
- cosmic curated COSV63565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.43
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)