S106N (p.Ser106Asn) variant of LRP2 (P98164)
S106N (p.Ser106Asn) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Donnai-Barrow syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S106N (p.Ser106Asn) variant details
- p.Ser106Asn
- rs759417883
- ClinGen CA1955915
- ClinVar RCV002200980
- ClinVar RCV004982934
- Conflicting interpretations
- Donnai-Barrow syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0636
- CADD 0.02
- PolyPhen-2 0.06
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (Donnai-Barrow syndrome; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)