A130V (p.Ala130Val) variant of TNXB (Tenascin-X)
A130V (p.Ala130Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- TOPMed rs1339074585
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available