S26L (p.Ser26Leu) variant of TBX5 (T-box transcription factor TBX5)
S26L (p.Ser26Leu) 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; Holt-Oram syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- rs1085307848
- ClinGen CA386863551
- cosmic curated COSV59859
- ClinVar RCV000489172
- Conflicting interpretations
- Cardiovascular phenotype; Holt-Oram syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Holt-Oram syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)