A23V (p.Ala23Val) variant of TNXB (Tenascin-X)
A23V (p.Ala23Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- ExAC rs756471108
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.16
- ESM-1b 0.72
- AlphaMissense 0.21
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available