p.Pro11 Leu12insArg variant of LRP5 (O75197)
p.Pro11 Leu12insArg in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro11 Leu12insArg variant details
- gnomAD 11-68312746-C-CGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 7.49
- Most common in the Non-Finnish European population (allele frequency 4.9e-06)
- Structural context available
- Literature evidence available