G45V (p.Gly45Val) variant of TNXB (Tenascin-X)
G45V (p.Gly45Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G45V (p.Gly45Val) variant details
- p.Gly45Val
- TOPMed rs1247295789
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available