P42L (p.Pro42Leu) variant of TBX5 (T-box transcription factor TBX5)
P42L (p.Pro42Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aortic valve disease 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs759976245
- ClinGen CA6809714
- ClinVar RCV001450648
- ClinVar RCV002432252
- Conflicting interpretations
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available