E362Q (p.Glu362Gln) variant of TH (Tyrosine 3-monooxygenase)
E362Q (p.Glu362Gln) 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 0.63 / 1. The record also includes population frequency data and structural context.
E362Q (p.Glu362Gln) variant details
- p.Glu362Gln
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60767
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.77
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available