R91M (p.Arg91Met) variant of F11 (Coagulation factor XI)
R91M (p.Arg91Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes published literature and structural context.
R91M (p.Arg91Met) variant details
- p.Arg91Met
- rs2477229263
- ClinGen CA358958259
- ClinVar RCV003367171
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.34
- MetaSVM -0.79
- CADD 11.33
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)