Q112P (p.Gln112Pro) variant of LRP2 (P98164)
Q112P (p.Gln112Pro) 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 0.63 / 1. The record also includes population frequency data and structural context.
Q112P (p.Gln112Pro) variant details
- p.Gln112Pro
- rs769445177
- ClinGen CA349168681
- ClinVar RCV003044471
- ExAC rs769445177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available