P39S (p.Pro39Ser) variant of GCH1 (GTP cyclohydrolase 1)
P39S (p.Pro39Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- ExAC rs770932357
- gnomAD rs770932357
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.29
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available