P96S (p.Pro96Ser) variant of TBX5 (T-box transcription factor TBX5)
P96S (p.Pro96Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic valve disease 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P96S (p.Pro96Ser) variant details
- p.Pro96Ser
- rs1203503352
- ClinGen CA386862770
- cosmic curated COSV10511
- ClinVar RCV002917489
- Uncertain significance
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.83
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available