G63R (p.Gly63Arg) variant of GATA5 (Transcription factor GATA-5)
G63R (p.Gly63Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- Ensembl rs975107982
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.35
- MetaLR 0.92
- MetaSVM 0.66
- CADD 17.50
- PolyPhen-2 0.91
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available