G110C (p.Gly110Cys) variant of GATA5 (Transcription factor GATA-5)
G110C (p.Gly110Cys) 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.
G110C (p.Gly110Cys) variant details
- p.Gly110Cys
- rs1373761742
- ClinGen CA409556706
- ClinVar RCV001200156
- TOPMed rs1373761742
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.41
- MetaLR 0.89
- MetaSVM 0.65
- CADD 18.90
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available