R30Q (p.Arg30Gln) variant of GATA6 (Transcription factor GATA-6)
R30Q (p.Arg30Gln) 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; Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs756406083
- ClinGen CA8908804
- cosmic curated COSV10587
- ClinVar RCV001208478
- Uncertain significance
- not provided; Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.38
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00037)
- Structural context available