A16T (p.Ala16Thr) variant of GATA6 (Transcription factor GATA-6)
A16T (p.Ala16Thr) 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 Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- Ensembl rs1035980210
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available