A101T (p.Ala101Thr) variant of GCH1 (GTP cyclohydrolase 1)
A101T (p.Ala101Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- rs1064796560
- ClinGen CA16619875
- ClinVar RCV000481039
- ClinVar RCV004767297
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.83
- CADD 26.60
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available