D23H (p.Asp23His) variant of GATA6 (Transcription factor GATA-6)
D23H (p.Asp23His) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D23H (p.Asp23His) variant details
- p.Asp23His
- gnomAD 18-22171211-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available