F67L (p.Phe67Leu) variant of TBX20 (T-box transcription factor TBX20)
F67L (p.Phe67Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- rs2546997472
- ClinGen CA367265272
- ClinVar RCV003288436
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.40
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available