P83R (p.Pro83Arg) variant of GATA5 (Transcription factor GATA-5)
P83R (p.Pro83Arg) in GATA5 (Transcription factor GATA-5) 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 0.46 / 1. The record also includes population frequency data and structural context.
P83R (p.Pro83Arg) variant details
- p.Pro83Arg
- TOPMed rs994848200
- gnomAD rs994848200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- MetaLR 0.88
- MetaSVM 0.52
- CADD 23.70
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available