P14L (p.Pro14Leu) variant of GATA4 (Transcription factor GATA-4)
P14L (p.Pro14Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- TOPMed rs996317979
- gnomAD rs996317979
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.55
- MetaLR 0.18
- MetaSVM -0.94
- CADD 23.50
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available