C45Y (p.Cys45Tyr) variant of RNF207 (RING finger protein 207)
C45Y (p.Cys45Tyr) in RNF207 (RING finger protein 207) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C45Y (p.Cys45Tyr) variant details
- p.Cys45Tyr
- rs1312663755
- ClinGen CA338068519
- ClinVar RCV004446595
- TOPMed rs1312663755
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available