L20del (p.Leu20del) variant of LRP5 (O75197)
L20del (p.Leu20del) 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.
L20del (p.Leu20del) variant details
- rs72555376
- gnomAD 11-68312746-CGCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 7.46
- Most common in the HGDP:SAN population (allele frequency 0.1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. (PMID 23441120)