A21G (p.Ala21Gly) variant of GATA6 (Transcription factor GATA-6)
A21G (p.Ala21Gly) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- rs139666654
- ClinGen CA8908801
- ClinVar RCV000862834
- ClinVar RCV001551884
- Likely benign
- not provided; Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Likely benign (not provided; Atrioventricular septal defect 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available