G72D (p.Gly72Asp) variant of TBX20 (T-box transcription factor TBX20)
G72D (p.Gly72Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- rs765324684
- ClinGen CA4217555
- NCI-TCGA Cosmic COSV9906
- ClinVar RCV002417889
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.19
- CADD 14.80
- PolyPhen-2 0.03
- SIFT 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available