P223Q (p.Pro223Gln) variant of TH (Tyrosine 3-monooxygenase)
P223Q (p.Pro223Gln) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P223Q (p.Pro223Gln) variant details
- p.Pro223Gln
- rs760346235
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60768
- ExAC rs760346235
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available