S27T (p.Ser27Thr) variant of TNXB (Tenascin-X)
S27T (p.Ser27Thr) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- TOPMed rs1256285075
- gnomAD rs1256285075
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available