S108G (p.Ser108Gly) variant of MEFV (Pyrin)
S108G (p.Ser108Gly) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in ARFMF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S108G (p.Ser108Gly) variant details
- p.Ser108Gly
- ExAC rs104895103
- gnomAD rs104895103
- Likely benign
- in ARFMF
- Missense
- Variant Prioritization Score for Impact Estimate 0.0748
- REVEL 0.05
- CADD 2.48
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Likely benign (in ARFMF)
- UniProt: Likely benign (in ARFMF)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available