A65E (p.Ala65Glu) variant of GATA5 (Transcription factor GATA-5)
A65E (p.Ala65Glu) 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 0.50 / 1. The record also includes population frequency data and structural context.
A65E (p.Ala65Glu) variant details
- p.Ala65Glu
- rs1555897030
- ClinGen CA409557495
- ClinVar RCV001964748
- gnomAD rs1555897030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.43
- MetaLR 0.94
- MetaSVM 0.73
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available