P19L (p.Pro19Leu) variant of RNF215 (RING finger protein 215)
P19L (p.Pro19Leu) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- TOPMed rs1193885504
- gnomAD rs1193885504
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available