P11S (p.Pro11Ser) variant of LRP5 (O75197)
P11S (p.Pro11Ser) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs1272970460
- ClinGen CA381607336
- ClinVar RCV001995981
- ClinVar RCV004042501
- Uncertain significance
- Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.30
- CADD 6.60
- PolyPhen-2 0.64
- SIFT 0.62
- ClinVar: Uncertain significance (Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 w)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00021)
- 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)