A130T (p.Ala130Thr) variant of TNXB (Tenascin-X)
A130T (p.Ala130Thr) 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.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- ExAC rs771337502
- gnomAD rs771337502
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.40
- ESM-1b 0.09
- AlphaMissense 0.16
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 3e-05)
- Structural context available