S123R (p.Ser123Arg) variant of LRP2 (P98164)
S123R (p.Ser123Arg) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S123R (p.Ser123Arg) variant details
- p.Ser123Arg
- rs757393374
- ClinGen CA1955901
- ClinVar RCV004413143
- ExAC rs757393374
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)