A94V (p.Ala94Val) variant of F11 (Coagulation factor XI)
A94V (p.Ala94Val) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A94V (p.Ala94Val) variant details
- p.Ala94Val
- rs367856671
- cosmic curated COSV99251
- ESP rs367856671
- ExAC rs367856671
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.81
- MetaSVM 0.73
- CADD 22.50
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available