D5G (p.Asp5Gly) variant of GATA6 (Transcription factor GATA-6)
D5G (p.Asp5Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- gnomAD rs2033033156
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.52
- CADD 25.60
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available