E111K (p.Glu111Lys) variant of TNXB (Tenascin-X)
E111K (p.Glu111Lys) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- TOPMed rs1780499321
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available