L110P (p.Leu110Pro) variant of MEFV (Pyrin)
L110P (p.Leu110Pro) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L110P (p.Leu110Pro) variant details
- p.Leu110Pro
- rs11466018
- ClinGen CA201524
- ClinVar RCV000175565
- ClinVar RCV000588731
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- CADD 9.59
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the HGDP:NAXI population (allele frequency 0.14)
- Structural context available
- Cited in: Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity. (PMID 10854105)
- Cited in: Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense… (PMID 24929125)