A21S (p.Ala21Ser) variant of GATA6 (Transcription factor GATA-6)
A21S (p.Ala21Ser) 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 Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- rs752129361
- ClinGen CA8908800
- ClinVar RCV002025858
- 1000Genomes rs752129361
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available