A31E (p.Ala31Glu) variant of LRP2 (P98164)
A31E (p.Ala31Glu) 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 0.31 / 1. The record also includes population frequency data and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- rs144829356
- ClinGen CA59967238
- ClinVar RCV001965244
- 1000Genomes rs144829356
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 9.53
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available