G113R (p.Gly113Arg) variant of GATA5 (Transcription factor GATA-5)
G113R (p.Gly113Arg) in GATA5 (Transcription factor GATA-5) is a missense change. 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.
G113R (p.Gly113Arg) variant details
- p.Gly113Arg
- TOPMed rs1303649231
- gnomAD rs1303649231
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.43
- MetaLR 0.85
- MetaSVM 0.62
- CADD 14.60
- PolyPhen-2 0.68
- SIFT 0.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available