E31K (p.Glu31Lys) variant of PML (Protein PML)
E31K (p.Glu31Lys) in PML (Protein PML) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- ExAC rs768816135
- TOPMed rs768816135
- gnomAD rs768816135
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.17
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available