G101E (p.Gly101Glu) variant of GATA5 (Transcription factor GATA-5)
G101E (p.Gly101Glu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G101E (p.Gly101Glu) variant details
- p.Gly101Glu
- Ensembl rs2146490434
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.26
- MetaLR 0.93
- MetaSVM 0.62
- CADD 15.70
- PolyPhen-2 0.97
- SIFT 0.86
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available