R12H (p.Arg12His) variant of GATA5 (Transcription factor GATA-5)
R12H (p.Arg12His) 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 0.39 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- ExAC rs782050292
- TOPMed rs782050292
- gnomAD rs782050292
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- MetaLR 0.73
- MetaSVM 0.12
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available