G45D (p.Gly45Asp) variant of RNF215 (RING finger protein 215)
G45D (p.Gly45Asp) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- 1000Genomes rs1378412566
- TOPMed rs1378412566
- gnomAD rs1378412566
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available