L3P (p.Leu3Pro) variant of POLE (Q07864)
L3P (p.Leu3Pro) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- rs2542222434
- ClinGen CA387373552
- ClinVar RCV003319538
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available