P49A (p.Pro49Ala) variant of GCH1 (GTP cyclohydrolase 1)
P49A (p.Pro49Ala) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs573085618
- ClinGen CA7193676
- ClinVar RCV002093995
- 1000Genomes rs573085618
- Likely benign
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.29
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Likely benign (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)