G116A (p.Gly116Ala) variant of TNXB (Tenascin-X)
G116A (p.Gly116Ala) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G116A (p.Gly116Ala) variant details
- p.Gly116Ala
- TOPMed rs1216124530
- gnomAD rs1216124530
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available