P49S (p.Pro49Ser) variant of GCH1 (GTP cyclohydrolase 1)
P49S (p.Pro49Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- rs573085618
- ClinGen CA7193675
- ClinVar RCV003783778
- 1000Genomes rs573085618
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.34
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)