D23Y (p.Asp23Tyr) variant of GATA6 (Transcription factor GATA-6)
D23Y (p.Asp23Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- gnomAD 18-22171211-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.44
- CADD 24.10
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available