P83Q (p.Pro83Gln) variant of GATA5 (Transcription factor GATA-5)
P83Q (p.Pro83Gln) 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.
P83Q (p.Pro83Gln) variant details
- p.Pro83Gln
- TOPMed rs994848200
- gnomAD rs994848200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.35
- MetaLR 0.88
- MetaSVM 0.53
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.03
- 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