W519C (p.Trp519Cys) variant of F11 (Coagulation factor XI)
W519C (p.Trp519Cys) 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 not provided; Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
W519C (p.Trp519Cys) variant details
- p.Trp519Cys
- rs1334907475
- ClinGen CA358944302
- ClinVar RCV003555172
- gnomAD rs1334907475
- Pathogenic/Likely pathogenic
- not provided; Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Plasma factor XI deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available