P39S (p.Pro39Ser) variant of TBX5 (T-box transcription factor TBX5)
P39S (p.Pro39Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Aortic valve disease 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs145703644
- ClinGen CA6809716
- ClinVar RCV002373228
- ClinVar RCV003094446
- Likely benign
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.30
- CADD 26.60
- PolyPhen-2 0.59
- SIFT 0.03
- ClinVar: Likely benign (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available