A17D (p.Ala17Asp) variant of GATA5 (Transcription factor GATA-5)
A17D (p.Ala17Asp) 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 not provided. 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.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- rs781990084
- ClinGen CA9946338
- ClinVar RCV003551849
- ExAC rs781990084
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- MetaLR 0.76
- MetaSVM 0.17
- CADD 16.60
- PolyPhen-2 0.26
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available