G68V (p.Gly68Val) variant of TBX20 (T-box transcription factor TBX20)
G68V (p.Gly68Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G68V (p.Gly68Val) variant details
- p.Gly68Val
- rs763145312
- ClinGen CA4217558
- ClinVar RCV002633413
- ExAC rs763145312
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.25
- CADD 17.20
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available