R61C (p.Arg61Cys) variant of GATA5 (Transcription factor GATA-5)
R61C (p.Arg61Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs782403666
- ClinGen CA317288629
- ClinVar RCV001943787
- TOPMed rs782403666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- MetaLR 0.78
- MetaSVM 0.30
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available