L79M (p.Leu79Met) variant of TNXB (Tenascin-X)
L79M (p.Leu79Met) in TNXB (Tenascin-X) 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 0.69 / 1. The record also includes structural context.
L79M (p.Leu79Met) variant details
- p.Leu79Met
- rs780737052
- ClinGen CA363492303
- ClinVar RCV001768749
- ExAC rs780737052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.86
- MetaSVM 0.38
- SIFT 0.00
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available