P85L (p.Pro85Leu) variant of TBX5 (T-box transcription factor TBX5)
P85L (p.Pro85Leu) 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 Cardiovascular phenotype; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- rs1565941576
- ClinGen CA386862897
- ClinVar RCV000782342
- ClinVar RCV006342541
- Conflicting interpretations
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)