S138L (p.Ser138Leu) variant of TBX20 (T-box transcription factor TBX20)
S138L (p.Ser138Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Atrial septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S138L (p.Ser138Leu) variant details
- p.Ser138Leu
- rs778902854
- ClinGen CA4217512
- NCI-TCGA Cosmic COSV6878
- ClinVar RCV001760485
- Uncertain significance
- Cardiovascular phenotype; not provided; Atrial septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Atrial septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available