L80V (p.Leu80Val) variant of TBX20 (T-box transcription factor TBX20)
L80V (p.Leu80Val) 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 0.38 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs1790274874
- ClinGen CA367265197
- ClinVar RCV001962510
- ClinVar RCV002458841
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.34
- CADD 18.00
- PolyPhen-2 0.04
- SIFT 0.59
- 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 2.9e-05)
- Structural context available