A36S (p.Ala36Ser) variant of GCH1 (GTP cyclohydrolase 1)
A36S (p.Ala36Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- gnomAD rs1030068813
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.19
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available