N78S (p.Asn78Ser) variant of MEFV (Pyrin)
N78S (p.Asn78Ser) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N78S (p.Asn78Ser) variant details
- p.Asn78Ser
- rs145015653
- ClinGen CA7860501
- ClinVar RCV000215498
- ClinVar RCV001121438
- Conflicting interpretations
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.39
- AlphaMissense 0.66
- MetaLR 0.43
- MetaSVM -0.35
- CADD 24.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)