T374M (p.Thr374Met) variant of TH (Tyrosine 3-monooxygenase)
T374M (p.Thr374Met) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T374M (p.Thr374Met) variant details
- p.Thr374Met
- rs868563700
- gnomAD 11-2165750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- AlphaMissense 0.58
- MetaLR 0.99
- MetaSVM 0.91
- CADD 27.00
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available