G66E (p.Gly66Glu) variant of TNXB (Tenascin-X)
G66E (p.Gly66Glu) in TNXB (Tenascin-X) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G66E (p.Gly66Glu) variant details
- p.Gly66Glu
- 1000Genomes rs200569294
- ESP rs200569294
- ExAC rs200569294
- TOPMed rs200569294
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available