Q120E (p.Gln120Glu) variant of TNXB (Tenascin-X)
Q120E (p.Gln120Glu) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q120E (p.Gln120Glu) variant details
- p.Gln120Glu
- ExAC rs775116960
- gnomAD rs775116960
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 4.7e-05)
- Structural context available