S27F (p.Ser27Phe) variant of TNXB (Tenascin-X)
S27F (p.Ser27Phe) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs372058480
- ClinGen CA3735915
- ClinVar RCV002419479
- ClinVar RCV005931873
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 25.50
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available