V100L (p.Val100Leu) variant of TNXB (Tenascin-X)
V100L (p.Val100Leu) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- TOPMed rs1176134021
- gnomAD rs1176134021
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.40
- CADD 15.60
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available