G418V (p.Gly418Val) variant of F11 (Coagulation factor XI)
G418V (p.Gly418Val) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Factor XI deficiency; Plasma factor XI deficiency; Hereditary factor XI deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G418V (p.Gly418Val) variant details
- p.Gly418Val
- rs121965071
- ClinGen CA121767
- ClinVar RCV000012678
- UniProt VAR 054901
- Pathogenic/Likely pathogenic
- Factor XI deficiency; Plasma factor XI deficiency; Hereditary factor XI deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Factor XI deficiency; Plasma factor XI deficiency; Hereditary fa)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. (PMID 15026311)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)