G76C (p.Gly76Cys) variant of GATA5 (Transcription factor GATA-5)
G76C (p.Gly76Cys) 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 Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G76C (p.Gly76Cys) variant details
- p.Gly76Cys
- rs868924022
- ClinGen CA409557335
- ClinVar RCV003142552
- Ensembl rs868924022
- Uncertain significance
- Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.45
- MetaLR 0.92
- MetaSVM 0.57
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Congenital heart defects, multiple types, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available