A21D (p.Ala21Asp) variant of GATA6 (Transcription factor GATA-6)
A21D (p.Ala21Asp) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- 1000Genomes rs139666654
- ESP rs139666654
- ExAC rs139666654
- TOPMed rs139666654
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 0.63
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available