G29S (p.Gly29Ser) variant of GATA5 (Transcription factor GATA-5)
G29S (p.Gly29Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- ExAC rs782621711
- gnomAD rs782621711
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- MetaLR 0.75
- MetaSVM 0.16
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available