Y3C (p.Tyr3Cys) variant of RBM10 (RNA-binding protein 10)
Y3C (p.Tyr3Cys) in RBM10 (RNA-binding protein 10) 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, experimental measurements, and structural context.
Y3C (p.Tyr3Cys) variant details
- p.Tyr3Cys
- rs1877750604
- ClinGen CA412784297
- ClinVar RCV002922667
- TOPMed rs1877750604
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.18
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.232