P94S (p.Pro94Ser) variant of GATA5 (Transcription factor GATA-5)
P94S (p.Pro94Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P94S (p.Pro94Ser) variant details
- p.Pro94Ser
- TOPMed rs1989825939
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.23
- MetaLR 0.69
- MetaSVM -0.22
- CADD 9.68
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available