W519S (p.Trp519Ser) variant of F11 (Coagulation factor XI)
W519S (p.Trp519Ser) 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 Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
W519S (p.Trp519Ser) variant details
- p.Trp519Ser
- rs201007090
- NCI-TCGA Cosmic COSV9925
- cosmic curated COSV99250
- ExAC rs201007090
- Likely pathogenic
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Plasma factor XI deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available