G63A (p.Gly63Ala) variant of GATA5 (Transcription factor GATA-5)
G63A (p.Gly63Ala) 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 0.30 / 1. The record also includes population frequency data and structural context.
G63A (p.Gly63Ala) variant details
- p.Gly63Ala
- rs1264711333
- ClinGen CA409557517
- ClinVar RCV001923578
- TOPMed rs1264711333
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.27
- MetaLR 0.82
- MetaSVM 0.13
- CADD 10.40
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available