R38W (p.Arg38Trp) variant of TNXB (Tenascin-X)
R38W (p.Arg38Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs760408528
- ClinGen CA3735908
- ClinVar RCV002320558
- ExAC rs760408528
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available