G109R (p.Gly109Arg) variant of GATA5 (Transcription factor GATA-5)
G109R (p.Gly109Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- rs1555897007
- ClinGen CA409556720
- ClinVar RCV003008486
- TOPMed rs1555897007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- MetaLR 0.86
- MetaSVM 0.75
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.16
- 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