P23A (p.Pro23Ala) variant of GCH1 (GTP cyclohydrolase 1)
P23A (p.Pro23Ala) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- gnomAD rs1308135163
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.40
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available