P83S (p.Pro83Ser) variant of GATA5 (Transcription factor GATA-5)
P83S (p.Pro83Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
P83S (p.Pro83Ser) variant details
- p.Pro83Ser
- rs1410534749
- ClinGen CA409557202
- ClinVar RCV002715643
- TOPMed rs1410534749
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.34
- MetaLR 0.70
- MetaSVM 0.05
- CADD 14.10
- PolyPhen-2 0.14
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available