N37S (p.Asn37Ser) variant of TBX20 (T-box transcription factor TBX20)
N37S (p.Asn37Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- gnomAD rs1562569203
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.17
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available