P55S (p.Pro55Ser) variant of GATA5 (Transcription factor GATA-5)
P55S (p.Pro55Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs111252974
- ClinGen CA409557613
- ClinVar RCV003856863
- TOPMed rs111252974
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.28
- MetaLR 0.72
- MetaSVM 0.01
- CADD 4.92
- PolyPhen-2 0.00
- SIFT 1.00
- 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