A72P (p.Ala72Pro) variant of GCH1 (GTP cyclohydrolase 1)
A72P (p.Ala72Pro) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- gnomAD rs1160103349
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.68
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available