P50L (p.Pro50Leu) variant of MEFV (Pyrin)
P50L (p.Pro50Leu) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs144716190
- ClinGen CA7860525
- ClinVar RCV001374636
- ClinVar RCV002488189
- Conflicting interpretations
- Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever; Familial Mediterranean fever, auto)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)