R38L (p.Arg38Leu) variant of TNXB (Tenascin-X)
R38L (p.Arg38Leu) in TNXB (Tenascin-X) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- 1000Genomes rs149502087
- ESP rs149502087
- ExAC rs149502087
- TOPMed rs149502087
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- ESM-1b 0.00
- AlphaMissense 0.20
- EBI: Benign
- UniProt: Benign
- Structural context available