K230R (p.Lys230Arg) variant of FH (P07954)
K230R (p.Lys230Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K230R (p.Lys230Arg) variant details
- p.Lys230Arg
- rs752232718
- ClinGen CA1478630
- ClinVar RCV000494410
- ClinVar RCV001782983
- Pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary cancer-predisposing syndrome; Fumarase)
- EBI: Pathogenic (in FMRD and HLRCC)
- UniProt: Pathogenic (in FMRD and HLRCC)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell… (PMID 11865300)
- Cited in: Molecular analysis and prenatal diagnosis of human fumarase deficiency. (PMID 9635293)