P12L (p.Pro12Leu) variant of RNF215 (RING finger protein 215)
P12L (p.Pro12Leu) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- TOPMed rs1316623537
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available