K23R (p.Lys23Arg) variant of MEFV (Pyrin)
K23R (p.Lys23Arg) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- rs754679070
- ClinGen CA7860541
- ClinVar RCV001896285
- ClinVar RCV002506976
- Conflicting interpretations
- Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever; Familial Mediterranean fever, auto)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)