A23T (p.Ala23Thr) variant of TNXB (Tenascin-X)
A23T (p.Ala23Thr) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD rs1464969608
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available