P8L (p.Pro8Leu) variant of LRP5 (O75197)
P8L (p.Pro8Leu) in LRP5 (O75197) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs2098589225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.17
- CADD 6.74
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available