V48G (p.Val48Gly) variant of TNXB (Tenascin-X)
V48G (p.Val48Gly) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V48G (p.Val48Gly) variant details
- p.Val48Gly
- TOPMed rs1412694151
- gnomAD rs1412694151
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available