E92K (p.Glu92Lys) variant of TNXB (Tenascin-X)
E92K (p.Glu92Lys) in TNXB (Tenascin-X) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- rs766329025
- ExAC rs766329025
- TOPMed rs766329025
- gnomAD rs766329025
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 8.3e-05)
- Structural context available