A52E (p.Ala52Glu) variant of RNF215 (RING finger protein 215)
A52E (p.Ala52Glu) in RNF215 (RING finger protein 215) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A52E (p.Ala52Glu) variant details
- p.Ala52Glu
- 1000Genomes rs1179368038
- TOPMed rs1179368038
- gnomAD rs1179368038
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available