R30L (p.Arg30Leu) variant of GATA6 (Transcription factor GATA-6)
R30L (p.Arg30Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- NCI-TCGA TCGA novel
- ExAC rs756406083
- TOPMed rs756406083
- gnomAD rs756406083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.35
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available