P55T (p.Pro55Thr) variant of GATA5 (Transcription factor GATA-5)
P55T (p.Pro55Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- TOPMed rs111252974
- gnomAD rs111252974
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.30
- MetaLR 0.79
- MetaSVM 0.07
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available