S44C (p.Ser44Cys) variant of GATA5 (Transcription factor GATA-5)
S44C (p.Ser44Cys) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S44C (p.Ser44Cys) variant details
- p.Ser44Cys
- Ensembl rs933755273
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- MetaLR 0.87
- MetaSVM 0.39
- CADD 23.30
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available