P23H (p.Pro23His) variant of TBX5 (T-box transcription factor TBX5)
P23H (p.Pro23His) 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; Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- rs141609745
- ClinGen CA6809732
- ClinVar RCV000332226
- ClinVar RCV000621936
- Conflicting interpretations
- Aortic valve disease 2; Cardiovascular phenotype; Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Aortic valve disease 2; Cardiovascular phenotype; Holt-Oram synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)