G78S (p.Gly78Ser) variant of GATA5 (Transcription factor GATA-5)
G78S (p.Gly78Ser) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- rs572247741
- ClinGen CA9946326
- ClinVar RCV001567440
- ClinVar RCV003130538
- Conflicting interpretations
- not specified; not provided; Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.29
- MetaLR 0.81
- MetaSVM 0.36
- CADD 15.40
- PolyPhen-2 0.28
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Congenital heart defects, multiple)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available