A2G (p.Ala2Gly) variant of MEFV (Pyrin)
A2G (p.Ala2Gly) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs200148051
- ClinGen CA276904651
- ClinVar RCV001222174
- ClinVar RCV004545129
- Uncertain significance
- Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- CADD 21.90
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever; Acute febrile neutrophilic dermato)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)