E2K (p.Glu2Lys) variant of GCH1 (GTP cyclohydrolase 1)
E2K (p.Glu2Lys) 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 0.72 / 1. The record also includes structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs2140127817
- ClinGen CA389795019
- ClinVar RCV002262440
- Ensembl rs2140127817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.23
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available