S108N (p.Ser108Asn) variant of MEFV (Pyrin)
S108N (p.Ser108Asn) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ARFMF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S108N (p.Ser108Asn) variant details
- p.Ser108Asn
- gnomAD rs1392896887
- Uncertain significance
- in ARFMF
- Missense
- Variant Prioritization Score for Impact Estimate 0.0587
- REVEL 0.05
- CADD 1.05
- PolyPhen-2 0.23
- SIFT 0.30
- EBI: Variant of uncertain significance (in ARFMF)
- UniProt: Uncertain significance (in ARFMF)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available