A18T (p.Ala18Thr) variant of LRP2 (P98164)
A18T (p.Ala18Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs2105595106
- ClinGen CA349256836
- ClinVar RCV001947332
- Ensembl rs2105595106
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available