A50P (p.Ala50Pro) variant of TNXB (Tenascin-X)
A50P (p.Ala50Pro) in TNXB (Tenascin-X) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- 1000Genomes rs576973691
- ExAC rs576973691
- TOPMed rs576973691
- gnomAD rs576973691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available