T137I (p.Thr137Ile) variant of TNXB (Tenascin-X)
T137I (p.Thr137Ile) 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 0.26 / 1. The record also includes structural context.
T137I (p.Thr137Ile) variant details
- p.Thr137Ile
- rs2127293541
- ClinGen CA363489103
- ClinVar RCV002222773
- Ensembl rs2127293541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.24
- MetaSVM -0.78
- SIFT 0.00
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available