F460V (p.Phe460Val) variant of F11 (Coagulation factor XI)
F460V (p.Phe460Val) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F460V (p.Phe460Val) variant details
- p.Phe460Val
- rs121965065
- ClinGen CA121750
- ClinVar RCV000012670
- UniProt VAR 012094
- Pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.17
- ClinVar: Pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Identification of two novel mutations in non-Jewish factor XI deficiency. (PMID 7669672)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)