A99S (p.Ala99Ser) variant of GCH1 (GTP cyclohydrolase 1)
A99S (p.Ala99Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
A99S (p.Ala99Ser) variant details
- p.Ala99Ser
- rs1566687219
- ClinGen CA389793631
- ClinVar RCV000711752
- Ensembl rs1566687219
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available