R396C (p.Arg396Cys) variant of F11 (Coagulation factor XI)
R396C (p.Arg396Cys) 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 Plasma factor XI deficiency; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R396C (p.Arg396Cys) variant details
- p.Arg396Cys
- rs771896253
- ClinGen CA199052
- NCI-TCGA Cosmic COSV5300
- cosmic curated COSV53001
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.10
- MetaLR 0.61
- MetaSVM -0.42
- PolyPhen-2 0.97
- SIFT 0.18
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available