A9T (p.Ala9Thr) variant of LRP2 (P98164)
A9T (p.Ala9Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs2105595174
- ClinGen CA349256941
- ClinVar RCV001966887
- Ensembl rs2105595174
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 16.10
- PolyPhen-2 0.08
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available