G21S (p.Gly21Ser) variant of GATA4 (Transcription factor GATA-4)
G21S (p.Gly21Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- ExAC rs762079549
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- MetaLR 0.86
- MetaSVM 0.59
- CADD 18.60
- PolyPhen-2 0.16
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available