S74N (p.Ser74Asn) variant of TBX20 (T-box transcription factor TBX20)
S74N (p.Ser74Asn) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S74N (p.Ser74Asn) variant details
- p.Ser74Asn
- ExAC rs776850953
- gnomAD rs776850953
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.26
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available