E106K (p.Glu106Lys) variant of TH (Tyrosine 3-monooxygenase)
E106K (p.Glu106Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- rs1424936497
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60766
- gnomAD rs1424936497
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.20
- MetaLR 0.87
- MetaSVM 0.72
- PolyPhen-2 0.05
- SIFT 0.19
- EVE 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available