A132T (p.Ala132Thr) variant of TNXB (Tenascin-X)
A132T (p.Ala132Thr) 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.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- ExAC rs747265735
- gnomAD rs747265735
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.40
- PolyPhen-2 0.29
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available