G103D (p.Gly103Asp) variant of GATA5 (Transcription factor GATA-5)
G103D (p.Gly103Asp) 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 0.43 / 1. The record also includes population frequency data and structural context.
G103D (p.Gly103Asp) variant details
- p.Gly103Asp
- rs781841004
- ClinGen CA9946324
- ClinVar RCV001988626
- ExAC rs781841004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- MetaLR 0.79
- MetaSVM 0.27
- CADD 15.10
- PolyPhen-2 0.17
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available