P30S (p.Pro30Ser) variant of GCH1 (GTP cyclohydrolase 1)
P30S (p.Pro30Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs944665606
- gnomAD rs944665606
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.37
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available