S22R (p.Ser22Arg) variant of GATA6 (Transcription factor GATA-6)
S22R (p.Ser22Arg) in GATA6 (Transcription factor GATA-6) 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 0.37 / 1. The record also includes population frequency data and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs1266267498
- ClinGen CA401798497
- ClinVar RCV003441171
- gnomAD rs1266267498
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.36
- CADD 20.50
- PolyPhen-2 0.16
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available