R140Q (p.Arg140Gln) variant of TNXB (Tenascin-X)
R140Q (p.Arg140Gln) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- rs758876550
- ClinGen CA136906876
- ClinVar RCV002327831
- ClinVar RCV005419439
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.24
- ESM-1b 0.97
- AlphaMissense 0.19
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available