L23R (p.Leu23Arg) variant of GATA5 (Transcription factor GATA-5)
L23R (p.Leu23Arg) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- TOPMed rs1173762787
- gnomAD rs1173762787
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.74
- MetaLR 0.96
- MetaSVM 1.18
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available