R140W (p.Arg140Trp) variant of TNXB (Tenascin-X)
R140W (p.Arg140Trp) 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 0.58 / 1. The record also includes population frequency data and structural context.
R140W (p.Arg140Trp) variant details
- p.Arg140Trp
- rs1420372911
- ClinGen CA363489046
- ClinVar RCV000519614
- TOPMed rs1420372911
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.8e-05)
- Structural context available