Q34P (p.Gln34Pro) variant of MEFV (Pyrin)
Q34P (p.Gln34Pro) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q34P (p.Gln34Pro) variant details
- p.Gln34Pro
- rs1959117792
- ClinGen CA394484735
- ClinVar RCV001243352
- TOPMed rs1959117792
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)