P15R (p.Pro15Arg) variant of GATA4 (Transcription factor GATA-4)
P15R (p.Pro15Arg) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- ExAC rs766466946
- gnomAD rs766466946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.59
- MetaLR 0.92
- MetaSVM 0.72
- CADD 22.70
- PolyPhen-2 0.81
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available