S109L (p.Ser109Leu) variant of LRP2 (P98164)
S109L (p.Ser109Leu) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S109L (p.Ser109Leu) variant details
- p.Ser109Leu
- ExAC rs770710407
- gnomAD rs770710407
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 23.10
- PolyPhen-2 0.51
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available