E24K (p.Glu24Lys) variant of GCH1 (GTP cyclohydrolase 1)
E24K (p.Glu24Lys) 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.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- cosmic curated COSV10878
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.29
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available