S11C (p.Ser11Cys) variant of MEFV (Pyrin)
S11C (p.Ser11Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S11C (p.Ser11Cys) variant details
- p.Ser11Cys
- rs149693562
- ClinGen CA276904610
- ClinVar RCV001367679
- ESP rs149693562
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.12
- CADD 19.60
- PolyPhen-2 0.81
- SIFT 0.07
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)