G21D (p.Gly21Asp) variant of GATA4 (Transcription factor GATA-4)
G21D (p.Gly21Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- gnomAD 8-11708374-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.82
- SIFT 0.20
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available