A96G (p.Ala96Gly) variant of GATA5 (Transcription factor GATA-5)
A96G (p.Ala96Gly) 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; GATA5-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A96G (p.Ala96Gly) variant details
- p.Ala96Gly
- rs113823160
- ClinGen CA317288591
- ClinVar RCV001567285
- ClinVar RCV003394146
- Conflicting interpretations
- not specified; not provided; GATA5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- MetaLR 0.86
- MetaSVM 0.36
- CADD 13.80
- PolyPhen-2 0.17
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; GATA5-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available