A52S (p.Ala52Ser) variant of RNF215 (RING finger protein 215)
A52S (p.Ala52Ser) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- TOPMed rs1198784319
- gnomAD rs1198784319
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available