A19S (p.Ala19Ser) variant of TBX5 (T-box transcription factor TBX5)
A19S (p.Ala19Ser) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs200461617
- ClinGen CA6809736
- ClinVar RCV000244681
- ClinVar RCV000292317
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.14
- CADD 6.50
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)