G32R (p.Gly32Arg) variant of F11 (Coagulation factor XI)
G32R (p.Gly32Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs281875259
- ClinGen CA219164
- cosmic curated COSV10510
- ClinVar RCV000059038
- Uncertain significance
- not specified; not provided; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.96
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified; not provided; Hereditary factor XI deficiency dis)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. (PMID 21668437)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)