R180L (p.Arg180Leu) variant of TH (Tyrosine 3-monooxygenase)
R180L (p.Arg180Leu) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R180L (p.Arg180Leu) variant details
- p.Arg180Leu
- rs1357867110
- ClinGen CA379128891
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available