A30V (p.Ala30Val) variant of GATA4 (Transcription factor GATA-4)
A30V (p.Ala30Val) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs749821814
- ClinGen CA4630603
- ClinVar RCV002975641
- ClinVar RCV005575023
- Uncertain significance
- Atrioventricular septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.64
- MetaLR 0.26
- MetaSVM -0.53
- CADD 19.40
- PolyPhen-2 0.30
- SIFT 0.04
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available