R140L (p.Arg140Leu) variant of TNXB (Tenascin-X)
R140L (p.Arg140Leu) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. 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.
R140L (p.Arg140Leu) variant details
- p.Arg140Leu
- rs758876550
- ClinGen CA3735848
- ClinVar RCV002327834
- ExAC rs758876550
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available