R104G (p.Arg104Gly) variant of TNXB (Tenascin-X)
R104G (p.Arg104Gly) 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 0.43 / 1. The record also includes population frequency data and structural context.
R104G (p.Arg104Gly) variant details
- p.Arg104Gly
- rs774066587
- ClinGen CA3735869
- ClinVar RCV001752086
- ExAC rs774066587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 22.40
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available