C87W (p.Cys87Trp) variant of TNXB (Tenascin-X)
C87W (p.Cys87Trp) 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.
C87W (p.Cys87Trp) variant details
- p.Cys87Trp
- ExAC rs747238301
- gnomAD rs747238301
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available