E56K (p.Glu56Lys) variant of GCH1 (GTP cyclohydrolase 1)
E56K (p.Glu56Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- NCI-TCGA Cosmic COSV5430
- cosmic curated COSV54301
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available