G117V (p.Gly117Val) variant of TBX20 (T-box transcription factor TBX20)
G117V (p.Gly117Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G117V (p.Gly117Val) variant details
- p.Gly117Val
- rs138597530
- ClinGen CA4217538
- ClinVar RCV001999540
- ClinVar RCV002458981
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available