S52I (p.Ser52Ile) variant of GATA5 (Transcription factor GATA-5)
S52I (p.Ser52Ile) 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 0.48 / 1. The record also includes population frequency data and structural context.
S52I (p.Ser52Ile) variant details
- p.Ser52Ile
- rs781995328
- ClinGen CA409557644
- ClinVar RCV002020832
- TOPMed rs781995328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- MetaLR 0.88
- MetaSVM 0.44
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available