Q13R (p.Gln13Arg) variant of GATA5 (Transcription factor GATA-5)
Q13R (p.Gln13Arg) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- ExAC rs781942087
- TOPMed rs781942087
- gnomAD rs781942087
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.37
- MetaLR 0.87
- MetaSVM 0.57
- CADD 19.00
- PolyPhen-2 0.48
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available