Q70P (p.Gln70Pro) variant of TNXB (Tenascin-X)
Q70P (p.Gln70Pro) in TNXB (Tenascin-X) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q70P (p.Gln70Pro) variant details
- p.Gln70Pro
- ESP rs199581373
- ExAC rs199581373
- TOPMed rs199581373
- gnomAD rs199581373
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available