A16T (p.Ala16Thr) variant of GCH1 (GTP cyclohydrolase 1)
A16T (p.Ala16Thr) 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.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- Ensembl rs1156577725
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.43
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available