N117K (p.Asn117Lys) variant of LRP2 (P98164)
N117K (p.Asn117Lys) in LRP2 (P98164) 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 0.06 / 1. The record also includes population frequency data and structural context.
N117K (p.Asn117Lys) variant details
- p.Asn117Lys
- rs1275076469
- ClinGen CA349168569
- ClinVar RCV001973640
- TOPMed rs1275076469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0637
- CADD 0.26
- PolyPhen-2 0.28
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available