S19I (p.Ser19Ile) variant of GCH1 (GTP cyclohydrolase 1)
S19I (p.Ser19Ile) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- gnomAD rs1457270763
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.41
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available