P93T (p.Pro93Thr) variant of TNXB (Tenascin-X)
P93T (p.Pro93Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
P93T (p.Pro93Thr) variant details
- p.Pro93Thr
- ExAC rs539922100
- TOPMed rs539922100
- gnomAD rs539922100
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.70
- PolyPhen-2 1.00
- 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 3e-05)
- Structural context available