S41L (p.Ser41Leu) variant of GATA5 (Transcription factor GATA-5)
S41L (p.Ser41Leu) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S41L (p.Ser41Leu) variant details
- p.Ser41Leu
- rs1270199168
- ClinGen CA409557777
- ClinVar RCV002275745
- TOPMed rs1270199168
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- MetaLR 0.94
- MetaSVM 0.56
- CADD 23.10
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available