Y16C (p.Tyr16Cys) variant of GATA5 (Transcription factor GATA-5)
Y16C (p.Tyr16Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs1202181267
- ClinGen CA409557987
- ClinVar RCV003551067
- TOPMed rs1202181267
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.64
- MetaLR 0.98
- MetaSVM 1.13
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CHTD5)
- UniProt: Uncertain significance (in CHTD5)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available