L176F (p.Leu176Phe) variant of TH (Tyrosine 3-monooxygenase)
L176F (p.Leu176Phe) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
L176F (p.Leu176Phe) variant details
- p.Leu176Phe
- rs1180123781
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60766
- gnomAD rs1180123781
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.15
- MetaLR 0.93
- MetaSVM 0.89
- PolyPhen-2 0.85
- SIFT 0.05
- EVE 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available