L27P (p.Leu27Pro) variant of RNF215 (RING finger protein 215)
L27P (p.Leu27Pro) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- TOPMed rs1462659501
- gnomAD rs1462659501
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.15
- ESM-1b 0.82
- AlphaMissense 0.22
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available