P14R (p.Pro14Arg) variant of GATA4 (Transcription factor GATA-4)
P14R (p.Pro14Arg) 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; Cardiovascular phenotype; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs996317979
- ClinGen CA172074401
- ClinVar RCV002255198
- ClinVar RCV002332946
- Uncertain significance
- not provided; Cardiovascular phenotype; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.57
- MetaLR 0.91
- MetaSVM 0.87
- CADD 23.30
- PolyPhen-2 0.81
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Atrioventricular septal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available