G21C (p.Gly21Cys) variant of GATA4 (Transcription factor GATA-4)
G21C (p.Gly21Cys) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- ExAC rs762079549
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.67
- MetaLR 0.91
- MetaSVM 0.86
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available