A36V (p.Ala36Val) variant of GCH1 (GTP cyclohydrolase 1)
A36V (p.Ala36Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- gnomAD rs1431116951
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.28
- CADD 15.20
- PolyPhen-2 0.06
- SIFT 0.27
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available