L370P (p.Leu370Pro) variant of TH (Tyrosine 3-monooxygenase)
L370P (p.Leu370Pro) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L370P (p.Leu370Pro) variant details
- p.Leu370Pro
- gnomAD 11-2165762-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.95
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available