L12P (p.Leu12Pro) variant of LRP5 (O75197)
L12P (p.Leu12Pro) 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 0.19 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs1019409513
- ClinGen CA224251992
- NCI-TCGA Cosmic COSV5372
- ClinVar RCV002716729
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.23
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available