S56P (p.Ser56Pro) variant of TNXB (Tenascin-X)
S56P (p.Ser56Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
S56P (p.Ser56Pro) variant details
- p.Ser56Pro
- TOPMed rs1332242390
- gnomAD rs1332242390
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.02
- 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