P5A (p.Pro5Ala) variant of LRP5 (O75197)
P5A (p.Pro5Ala) 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 0.31 / 1. The record also includes population frequency data and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- rs2496190917
- ClinGen CA381607248
- ClinVar RCV002797197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.26
- CADD 18.10
- PolyPhen-2 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available