P40R (p.Pro40Arg) variant of GATA5 (Transcription factor GATA-5)
P40R (p.Pro40Arg) 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 0.67 / 1. The record also includes population frequency data and structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- rs1555897063
- ClinGen CA409557791
- ClinVar RCV003559632
- gnomAD rs1555897063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.62
- MetaLR 0.94
- MetaSVM 1.01
- CADD 23.90
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available