G106S (p.Gly106Ser) variant of GATA5 (Transcription factor GATA-5)
G106S (p.Gly106Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
G106S (p.Gly106Ser) variant details
- p.Gly106Ser
- TOPMed rs921019435
- gnomAD rs921019435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.23
- MetaLR 0.74
- MetaSVM 0.05
- CADD 8.11
- PolyPhen-2 0.09
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available