P35H (p.Pro35His) variant of TBX5 (T-box transcription factor TBX5)
P35H (p.Pro35His) 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 Cardiovascular phenotype; Aortic valve disease 2. 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.
P35H (p.Pro35His) variant details
- p.Pro35His
- rs776705102
- ClinGen CA6809718
- ClinVar RCV002400995
- ClinVar RCV006470945
- Uncertain significance
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.31
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.35
- CADD 22.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available