T88A (p.Thr88Ala) variant of TBX20 (T-box transcription factor TBX20)
T88A (p.Thr88Ala) in TBX20 (T-box transcription factor TBX20) 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 0.42 / 1. The record also includes population frequency data and structural context.
T88A (p.Thr88Ala) variant details
- p.Thr88Ala
- rs1297571991
- ClinGen CA367265148
- ClinVar RCV000498681
- ClinVar RCV005286108
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.31
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available