P11L (p.Pro11Leu) variant of LRP5 (O75197)
P11L (p.Pro11Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- gnomAD rs1282312295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.33
- CADD 4.80
- PolyPhen-2 0.73
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0003)
- Structural context available