C360R (p.Cys360Arg) variant of TH (Tyrosine 3-monooxygenase)
C360R (p.Cys360Arg) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C360R (p.Cys360Arg) variant details
- p.Cys360Arg
- gnomAD 11-2165733-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.94
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available