S575L (p.Ser575Leu) variant of F11 (Coagulation factor XI)
S575L (p.Ser575Leu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S575L (p.Ser575Leu) variant details
- p.Ser575Leu
- rs281875250
- ClinGen CA219128
- NCI-TCGA Cosmic COSV5300
- cosmic curated COSV53001
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion… (PMID 22159456)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)