G109V (p.Gly109Val) variant of GATA5 (Transcription factor GATA-5)
G109V (p.Gly109Val) 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 0.38 / 1. The record also includes population frequency data and structural context.
G109V (p.Gly109Val) variant details
- p.Gly109Val
- rs1170998497
- ClinGen CA409556712
- ClinVar RCV003815097
- TOPMed rs1170998497
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- MetaLR 0.88
- MetaSVM 0.71
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.10
- 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