T132I (p.Thr132Ile) variant of TBX20 (T-box transcription factor TBX20)
T132I (p.Thr132Ile) 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; Atrial septal defect 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T132I (p.Thr132Ile) variant details
- p.Thr132Ile
- rs200630726
- ClinGen CA4217513
- ClinVar RCV001920786
- ClinVar RCV002484491
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available