E108K (p.Glu108Lys) variant of TH (Tyrosine 3-monooxygenase)
E108K (p.Glu108Lys) in TH (Tyrosine 3-monooxygenase) 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 0.54 / 1. The record also includes population frequency data and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- rs1038830878
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- gnomAD rs1038830878
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.13
- MetaLR 0.81
- MetaSVM 0.43
- PolyPhen-2 0.01
- SIFT 0.09
- EVE 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available