C9S (p.Cys9Ser) variant of GATA6 (Transcription factor GATA-6)
C9S (p.Cys9Ser) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C9S (p.Cys9Ser) variant details
- p.Cys9Ser
- rs1251160301
- ClinGen CA401798311
- ClinVar RCV001822721
- TOPMed rs1251160301
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.37
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available