A28V (p.Ala28Val) variant of GATA5 (Transcription factor GATA-5)
A28V (p.Ala28Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs112701160
- ClinGen CA9946333
- ClinVar RCV001550565
- ClinVar RCV003132517
- Uncertain significance
- Congenital heart defects, multiple types, 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.39
- MetaLR 0.90
- MetaSVM 1.07
- CADD 21.10
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital heart defects, multiple types, 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available