G29D (p.Gly29Asp) variant of GATA4 (Transcription factor GATA-4)
G29D (p.Gly29Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- gnomAD 8-11708398-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.55
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available