S80R (p.Ser80Arg) variant of GCH1 (GTP cyclohydrolase 1)
S80R (p.Ser80Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S80R (p.Ser80Arg) variant details
- p.Ser80Arg
- ExAC rs748890014
- gnomAD rs748890014
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.30
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available