S60T (p.Ser60Thr) variant of GCH1 (GTP cyclohydrolase 1)
S60T (p.Ser60Thr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S60T (p.Ser60Thr) variant details
- p.Ser60Thr
- ExAC rs756067922
- gnomAD rs756067922
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.55
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available