D23G (p.Asp23Gly) variant of GATA6 (Transcription factor GATA-6)
D23G (p.Asp23Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- Ensembl rs541367007
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available