V6E (p.Val6Glu) variant of GCH1 (GTP cyclohydrolase 1)
V6E (p.Val6Glu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V6E (p.Val6Glu) variant details
- p.Val6Glu
- gnomAD rs1206396500
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available