S95P (p.Ser95Pro) variant of MEFV (Pyrin)
S95P (p.Ser95Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S95P (p.Ser95Pro) variant details
- p.Ser95Pro
- rs1463263180
- ClinGen CA394482864
- ClinVar RCV001203619
- ClinVar RCV006279425
- Uncertain significance
- Familial Mediterranean fever; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.11
- AlphaMissense 0.21
- MetaLR 0.00
- MetaSVM -1.14
- CADD 5.49
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial Mediterranean fever; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)