D130N (p.Asp130Asn) variant of LRP4 (O75096)
D130N (p.Asp130Asn) in LRP4 (O75096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- ExAC rs765113454
- TOPMed rs765113454
- gnomAD rs765113454
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 11.10
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available