P5L (p.Pro5Leu) variant of LRP5 (O75197)
P5L (p.Pro5Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs886042987
- ClinGen CA10604959
- ClinVar RCV000387467
- TOPMed rs886042987
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.25
- CADD 21.40
- PolyPhen-2 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available