A17S (p.Ala17Ser) variant of GATA5 (Transcription factor GATA-5)
A17S (p.Ala17Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- ExAC rs782108635
- gnomAD rs782108635
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.16
- MetaLR 0.78
- MetaSVM -0.01
- CADD 8.75
- PolyPhen-2 0.04
- SIFT 0.83
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available