A44T (p.Ala44Thr) variant of GCH1 (GTP cyclohydrolase 1)
A44T (p.Ala44Thr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- gnomAD rs1208054607
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available