D391N (p.Asp391Asn) variant of TH (Tyrosine 3-monooxygenase)
D391N (p.Asp391Asn) in TH (Tyrosine 3-monooxygenase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D391N (p.Asp391Asn) variant details
- p.Asp391Asn
- rs201996748
- gnomAD 11-2165329-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available