R16Q (p.Arg16Gln) variant of FH (P07954)
R16Q (p.Arg16Gln) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs762310232
- ClinGen CA1478781
- ClinVar RCV003067771
- ClinVar RCV005019634
- Uncertain significance
- Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.76
- CADD 15.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary leiomyomatosis and renal cell cancer; Fumarase defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)