D11N (p.Asp11Asn) variant of NOD2 (Q9HC29)
D11N (p.Asp11Asn) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Regional enteritis; Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- rs746379299
- ClinGen CA8051167
- ClinVar RCV003079301
- ClinVar RCV003274208
- Uncertain significance
- Inborn genetic diseases; Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- MetaLR 0.13
- MetaSVM -1.00
- CADD 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases; Regional enteritis; Blau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.1e-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)