A105E (p.Ala105Glu) variant of MEFV (Pyrin)
A105E (p.Ala105Glu) in MEFV (Pyrin) is a missense change. The available record places it in the context of Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A105E (p.Ala105Glu) variant details
- p.Ala105Glu
- rs387907569
- ClinGen CA280329
- ClinVar RCV000049560
- Ensembl rs387907569
- not provided
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.01
- CADD 3.53
- PolyPhen-2 0.66
- ClinVar: not provided (Familial Mediterranean fever)
- UniProt: Not provided
- Population evidence available
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)