R140P (p.Arg140Pro) variant of TNXB (Tenascin-X)
R140P (p.Arg140Pro) 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 0.59 / 1. The record also includes population frequency data and structural context.
R140P (p.Arg140Pro) variant details
- p.Arg140Pro
- ExAC rs758876550
- TOPMed rs758876550
- gnomAD rs758876550
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available