S10C (p.Ser10Cys) variant of TNXB (Tenascin-X)
S10C (p.Ser10Cys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- rs747624258
- ClinGen CA3735924
- ClinVar RCV002435603
- ClinVar RCV004790213
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available