G110S (p.Gly110Ser) variant of GATA5 (Transcription factor GATA-5)
G110S (p.Gly110Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G110S (p.Gly110Ser) variant details
- p.Gly110Ser
- rs1373761742
- ClinGen CA409556710
- ClinVar RCV003698013
- ClinVar RCV004765950
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.21
- MetaLR 0.74
- MetaSVM 0.10
- CADD 5.95
- PolyPhen-2 0.04
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available