A8V (p.Ala8Val) variant of GATA4 (Transcription factor GATA-4)
A8V (p.Ala8Val) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD rs864321698
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.71
- MetaLR 0.29
- MetaSVM -0.62
- CADD 25.60
- PolyPhen-2 0.67
- SIFT 0.03
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available