F3L (p.Phe3Leu) variant of TBX20 (T-box transcription factor TBX20)
F3L (p.Phe3Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
F3L (p.Phe3Leu) variant details
- p.Phe3Leu
- TOPMed rs1584361799
- NCI-TCGA Cosmic COSV6878
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available