L7R (p.Leu7Arg) variant of GATA5 (Transcription factor GATA-5)
L7R (p.Leu7Arg) in GATA5 (Transcription factor GATA-5) 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 0.72 / 1. The record also includes population frequency data and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs1989838619
- ClinGen CA409558091
- ClinVar RCV003734498
- TOPMed rs1989838619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- 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