P77R (p.Pro77Arg) variant of GATA5 (Transcription factor GATA-5)
P77R (p.Pro77Arg) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P77R (p.Pro77Arg) variant details
- p.Pro77Arg
- Ensembl rs1989828672
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.41
- MetaLR 0.94
- MetaSVM 0.74
- CADD 25.00
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available