A108E (p.Ala108Glu) variant of GATA5 (Transcription factor GATA-5)
A108E (p.Ala108Glu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A108E (p.Ala108Glu) variant details
- p.Ala108Glu
- TOPMed rs1372855914
- gnomAD rs1372855914
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.26
- MetaLR 0.82
- MetaSVM 0.21
- CADD 9.38
- PolyPhen-2 0.16
- SIFT 0.28
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available