I77V (p.Ile77Val) variant of MEFV (Pyrin)
I77V (p.Ile77Val) 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, autosomal dominant; Acute febrile neutrophilic der. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- ExAC rs778607233
- gnomAD rs778607233
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available