L30M (p.Leu30Met) variant of RNF215 (RING finger protein 215)
L30M (p.Leu30Met) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- TOPMed rs1331443319
- gnomAD rs1331443319
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 22.80
- PolyPhen-2 0.83
- SIFT 0.18
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available