A59P (p.Ala59Pro) variant of GATA5 (Transcription factor GATA-5)
A59P (p.Ala59Pro) 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 0.33 / 1. The record also includes population frequency data and structural context.
A59P (p.Ala59Pro) variant details
- p.Ala59Pro
- rs1327408328
- ClinGen CA409557564
- ClinVar RCV001890166
- TOPMed rs1327408328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.28
- MetaLR 0.88
- MetaSVM 0.51
- CADD 19.10
- PolyPhen-2 0.74
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available