R7L (p.Arg7Leu) variant of PML (Protein PML)
R7L (p.Arg7Leu) in PML (Protein PML) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs1482238182
- ClinGen CA393114917
- ClinVar RCV004130956
- TOPMed rs1482238182
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- CADD 19.50
- PolyPhen-2 0.49
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available