V144I (p.Val144Ile) variant of F11 (Coagulation factor XI)
V144I (p.Val144Ile) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes population frequency data and structural context.
V144I (p.Val144Ile) variant details
- p.Val144Ile
- cosmic curated COSV10959
- gnomAD rs991720364
- Likely benign
- Inborn genetic diseases
- Missense
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Population evidence available
- Structural context available