N117S (p.Asn117Ser) variant of LRP2 (P98164)
N117S (p.Asn117Ser) 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.
N117S (p.Asn117Ser) variant details
- p.Asn117Ser
- rs746620514
- ClinGen CA1955906
- ClinVar RCV001927634
- ExAC rs746620514
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0594
- CADD 0.22
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available