H64N (p.His64Asn) variant of TBX20 (T-box transcription factor TBX20)
H64N (p.His64Asn) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H64N (p.His64Asn) variant details
- p.His64Asn
- rs1284014948
- ClinGen CA367265300
- ClinVar RCV003084169
- ClinVar RCV005752160
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available