V367A (p.Val367Ala) variant of TH (Tyrosine 3-monooxygenase)
V367A (p.Val367Ala) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V367A (p.Val367Ala) variant details
- p.Val367Ala
- rs573129039
- gnomAD 11-2165714-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.69
- CADD 24.80
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available