S123G (p.Ser123Gly) variant of LRP2 (P98164)
S123G (p.Ser123Gly) in LRP2 (P98164) is a missense change. 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.
S123G (p.Ser123Gly) variant details
- p.Ser123Gly
- ExAC rs779378631
- TOPMed rs779378631
- gnomAD rs779378631
- Missense
- Variant Prioritization Score for Impact Estimate 0.0631
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available