S282F (p.Ser282Phe) variant of TBX5 (T-box transcription factor TBX5)
S282F (p.Ser282Phe) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S282F (p.Ser282Phe) variant details
- p.Ser282Phe
- rs1565927794
- ClinGen CA386926505
- ClinVar RCV000782316
- Ensembl rs1565927794
- Pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.13
- MetaLR 0.47
- MetaSVM -0.04
- PolyPhen-2 0.88
- SIFT 0.02
- EVE 0.15
- ClinVar: Pathogenic (Holt-Oram syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)