S294R (p.Ser294Arg) variant of GATA6 (Transcription factor GATA-6)
S294R (p.Ser294Arg) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
S294R (p.Ser294Arg) variant details
- p.Ser294Arg
- 1000Genomes rs1207884364
- TOPMed rs1207884364
- gnomAD rs1207884364
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available