L16Q (p.Leu16Gln) variant of LRP5 (O75197)
L16Q (p.Leu16Gln) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- gnomAD 11-68312761-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.37
- CADD 8.73
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available