P48L (p.Pro48Leu) variant of RNF215 (RING finger protein 215)
P48L (p.Pro48Leu) 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- TOPMed rs1933614480
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 19.80
- PolyPhen-2 0.12
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available