T83A (p.Thr83Ala) variant of TNXB (Tenascin-X)
T83A (p.Thr83Ala) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T83A (p.Thr83Ala) variant details
- p.Thr83Ala
- gnomAD rs1246467263
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.28
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available