P38T (p.Pro38Thr) variant of GATA6 (Transcription factor GATA-6)
P38T (p.Pro38Thr) 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 GATA6-related disorder; Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P38T (p.Pro38Thr) variant details
- p.Pro38Thr
- rs769310811
- ClinGen CA8908813
- cosmic curated COSV99333
- ClinVar RCV001059930
- Uncertain significance
- GATA6-related disorder; Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.57
- CADD 24.60
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (GATA6-related disorder; Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available