G16A (p.Gly16Ala) variant of GATA4 (Transcription factor GATA-4)
G16A (p.Gly16Ala) 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.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- gnomAD rs1233489599
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.44
- MetaLR 0.08
- MetaSVM -1.04
- CADD 14.10
- PolyPhen-2 0.16
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available