P86S (p.Pro86Ser) variant of GCH1 (GTP cyclohydrolase 1)
P86S (p.Pro86Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P86S (p.Pro86Ser) variant details
- p.Pro86Ser
- ExAC rs781177989
- gnomAD rs781177989
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.77
- CADD 27.10
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available