L370V (p.Leu370Val) variant of TH (Tyrosine 3-monooxygenase)
L370V (p.Leu370Val) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L370V (p.Leu370Val) variant details
- p.Leu370Val
- gnomAD 11-2165763-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.56
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available