C25Y (p.Cys25Tyr) variant of RNF207 (RING finger protein 207)
C25Y (p.Cys25Tyr) 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 0.89 / 1. The record also includes population frequency data and structural context.
C25Y (p.Cys25Tyr) variant details
- p.Cys25Tyr
- rs373315370
- ClinGen CA557639
- ClinVar RCV004446604
- ESP rs373315370
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.99
- CADD 30.00
- 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 4.4e-05)
- Structural context available