D35N (p.Asp35Asn) variant of FGB (Fibrinogen beta chain)
D35N (p.Asp35Asn) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital afibrinogenemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- rs747783086
- ClinGen CA3114434
- ClinVar RCV001147194
- ClinVar RCV003283997
- Uncertain significance
- Congenital afibrinogenemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.10
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Congenital afibrinogenemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)