L373S (p.Leu373Ser) variant of F11 (Coagulation factor XI)
L373S (p.Leu373Ser) 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 0.66 / 1. The record also includes population frequency data and structural context.
L373S (p.Leu373Ser) variant details
- p.Leu373Ser
- rs375440170
- ClinGen CA3163883
- ClinVar RCV000851662
- ESP rs375440170
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.51
- MetaLR 0.75
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.30
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available