G110R (p.Gly110Arg) variant of GATA5 (Transcription factor GATA-5)
G110R (p.Gly110Arg) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G110R (p.Gly110Arg) variant details
- p.Gly110Arg
- TOPMed rs1373761742
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.37
- MetaLR 0.84
- MetaSVM 0.47
- CADD 17.60
- PolyPhen-2 0.53
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available