H53Q (p.His53Gln) variant of F11 (Coagulation factor XI)
H53Q (p.His53Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- rs281875261
- ClinGen CA219126
- ClinVar RCV000059017
- ClinVar RCV004700369
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.59
- MetaLR 0.81
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- 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)