L13V (p.Leu13Val) variant of MEFV (Pyrin)
L13V (p.Leu13Val) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- rs139448379
- ClinGen CA7860550
- ClinVar RCV001514888
- ClinVar RCV002506609
- Benign
- Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign (Familial Mediterranean fever; Familial Mediterranean fever, auto)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.012)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)