R111G (p.Arg111Gly) variant of GATA5 (Transcription factor GATA-5)
R111G (p.Arg111Gly) 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 0.50 / 1. The record also includes population frequency data and structural context.
R111G (p.Arg111Gly) variant details
- p.Arg111Gly
- TOPMed rs1989823484
- gnomAD rs1989823484
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.51
- MetaLR 0.96
- MetaSVM 0.69
- CADD 21.70
- PolyPhen-2 0.70
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available