A59S (p.Ala59Ser) variant of GATA5 (Transcription factor GATA-5)
A59S (p.Ala59Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- rs1327408328
- ClinGen CA409557560
- ClinVar RCV003661674
- TOPMed rs1327408328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.20
- MetaLR 0.70
- MetaSVM -0.11
- CADD 6.52
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available