M211T (p.Met211Thr) variant of GCH1 (GTP cyclohydrolase 1)
M211T (p.Met211Thr) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
M211T (p.Met211Thr) variant details
- p.Met211Thr
- rs1566658823
- ClinGen CA389787235
- ClinVar RCV000785876
- Ensembl rs1566658823
- Likely pathogenic
- GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.98
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (GTP cyclohydrolase I deficiency)
- EBI: Likely pathogenic (in DRD)
- UniProt: Likely pathogenic (in DRD)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available