A90P (p.Ala90Pro) variant of MEFV (Pyrin)
A90P (p.Ala90Pro) 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; Familial Mediterranean fever, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A90P (p.Ala90Pro) variant details
- p.Ala90Pro
- rs376971129
- ClinGen CA276904292
- ClinVar RCV001360070
- ClinVar RCV002504590
- Conflicting interpretations
- Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.18
- CADD 10.60
- PolyPhen-2 0.36
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever; Familial Mediterranean fever, auto)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)