D20H (p.Asp20His) variant of GATA6 (Transcription factor GATA-6)
D20H (p.Asp20His) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D20H (p.Asp20His) variant details
- p.Asp20His
- gnomAD 18-22171202-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.40
- CADD 23.80
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available