N117Y (p.Asn117Tyr) variant of LRP2 (P98164)
N117Y (p.Asn117Tyr) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N117Y (p.Asn117Tyr) variant details
- p.Asn117Tyr
- ExAC rs768168854
- TOPMed rs768168854
- gnomAD rs768168854
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 21.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available