L15V (p.Leu15Val) variant of LRP5 (O75197)
L15V (p.Leu15Val) 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 0.25 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs2098589299
- ClinGen CA381607418
- ClinVar RCV002726582
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- CADD 0.51
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available