V129D (p.Val129Asp) variant of F11 (Coagulation factor XI)
V129D (p.Val129Asp) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
V129D (p.Val129Asp) variant details
- p.Val129Asp
- TOPMed rs1335412831
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.58
- MetaSVM -0.47
- CADD 13.97
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available