H246= variant of TH (Tyrosine 3-monooxygenase)
H246= in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ARSEGS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H246= variant details
- rs768037080
- NCI-TCGA Cosmic COSV6076
- Uncertain significance
- in ARSEGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM -0.08
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.73
- EBI: Variant of uncertain significance (in ARSEGS)
- UniProt: Uncertain significance (in ARSEGS)
- Population evidence available
- Structural context available