N16S (p.Asn16Ser) variant of TBX20 (T-box transcription factor TBX20)
N16S (p.Asn16Ser) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N16S (p.Asn16Ser) variant details
- p.Asn16Ser
- gnomAD rs1230714807
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.27
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available