V33L (p.Val33Leu) variant of MEFV (Pyrin)
V33L (p.Val33Leu) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me. 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.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs11466016
- ClinGen CA280289
- ClinVar RCV000030189
- ClinVar RCV000589938
- Conflicting interpretations
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- CADD 1.45
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Benign (in dbSNP:rs11466016)
- UniProt: Benign (in dbSNP:rs11466016)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)