P39S (p.Pro39Ser) variant of RNF215 (RING finger protein 215)
P39S (p.Pro39Ser) 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.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- 1000Genomes rs1205469977
- TOPMed rs1205469977
- gnomAD rs1205469977
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available