D18N (p.Asp18Asn) variant of GATA5 (Transcription factor GATA-5)
D18N (p.Asp18Asn) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- ExAC rs782399317
- gnomAD rs782399317
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.55
- MetaLR 0.92
- MetaSVM 0.94
- CADD 23.80
- PolyPhen-2 0.79
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available