E43K (p.Glu43Lys) variant of GCH1 (GTP cyclohydrolase 1)
E43K (p.Glu43Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD rs1255523585
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.41
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available