P93S (p.Pro93Ser) variant of TNXB (Tenascin-X)
P93S (p.Pro93Ser) 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.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- rs539922100
- ClinGen CA3735872
- cosmic curated COSV64488
- ClinVar RCV002439714
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.5e-05)
- Structural context available