G15D (p.Gly15Asp) variant of GCH1 (GTP cyclohydrolase 1)
G15D (p.Gly15Asp) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HGCH-3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- gnomAD rs2040587010
- UniProt VAR 002632
- Uncertain significance
- in HGCH-3
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance (in HGCH-3)
- UniProt: Uncertain significance (in HGCH-3)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available