P69L (p.Pro69Leu) variant of GCH1 (GTP cyclohydrolase 1)
P69L (p.Pro69Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GTP cyclohydrolase I deficiency; Dystonia 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs56127440
- ClinGen CA211433
- ClinVar RCV000148505
- ClinVar RCV000265088
- Conflicting interpretations
- GTP cyclohydrolase I deficiency; Dystonia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (GTP cyclohydrolase I deficiency; Dystonia 5; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)