Q3P (p.Gln3Pro) variant of GATA4 (Transcription factor GATA-4)
Q3P (p.Gln3Pro) 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 not provided; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- rs374132087
- ClinGen CA4630587
- ClinVar RCV000532794
- ClinVar RCV001580514
- Uncertain significance
- not provided; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available