S95F (p.Ser95Phe) variant of MEFV (Pyrin)
S95F (p.Ser95Phe) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S95F (p.Ser95Phe) variant details
- p.Ser95Phe
- ExAC rs772921403
- TOPMed rs772921403
- gnomAD rs772921403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.13
- AlphaMissense 0.13
- MetaLR 0.00
- MetaSVM -1.06
- CADD 3.44
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available