L12Q (p.Leu12Gln) variant of LRP5 (O75197)
L12Q (p.Leu12Gln) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- rs1019409513
- ClinGen CA381607383
- ClinVar RCV001971791
- ClinVar RCV003987951
- Uncertain significance
- not specified; Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.26
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Autosomal dominant osteopetrosis 1; Polycystic li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)