L18V (p.Leu18Val) variant of LRP5 (O75197)
L18V (p.Leu18Val) in LRP5 (O75197) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- ExAC rs777352225
- gnomAD rs777352225
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.26
- CADD 11.50
- PolyPhen-2 0.36
- SIFT 0.49
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.1e-05)
- Structural context available