G6C (p.Gly6Cys) variant of GATA6 (Transcription factor GATA-6)
G6C (p.Gly6Cys) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- ESP rs139750927
- ExAC rs139750927
- TOPMed rs139750927
- gnomAD rs139750927
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 0.59
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available