A73V (p.Ala73Val) variant of GCH1 (GTP cyclohydrolase 1)
A73V (p.Ala73Val) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs2140127256
- ClinGen CA389793902
- ClinVar RCV002247857
- Ensembl rs2140127256
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.14
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 0.62
- SIFT 0.06
- EVE 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available