L20P (p.Leu20Pro) variant of LRP5 (O75197)
L20P (p.Leu20Pro) in LRP5 (O75197) 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 0.50 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2153110217
- ClinGen CA381607482
- ClinVar RCV001885525
- Ensembl rs2153110217
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.50
- CADD 22.20
- PolyPhen-2 0.77
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available