P83T (p.Pro83Thr) variant of GATA5 (Transcription factor GATA-5)
P83T (p.Pro83Thr) in GATA5 (Transcription factor GATA-5) 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 0.41 / 1. The record also includes population frequency data and structural context.
P83T (p.Pro83Thr) variant details
- p.Pro83Thr
- TOPMed rs1410534749
- gnomAD rs1410534749
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- MetaLR 0.81
- MetaSVM 0.39
- CADD 21.60
- PolyPhen-2 0.63
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available