P11S (p.Pro11Ser) variant of GATA5 (Transcription factor GATA-5)
P11S (p.Pro11Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- Ensembl rs1989838029
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.44
- MetaLR 0.91
- MetaSVM 0.95
- CADD 18.70
- PolyPhen-2 0.58
- SIFT 0.46
- Population evidence available
- Structural context available