P55A (p.Pro55Ala) variant of GATA5 (Transcription factor GATA-5)
P55A (p.Pro55Ala) 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 0.26 / 1. The record also includes population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- rs111252974
- ClinGen CA409557615
- ClinVar RCV003565117
- TOPMed rs111252974
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.32
- MetaLR 0.63
- MetaSVM 0.03
- CADD 2.15
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available