D69N (p.Asp69Asn) variant of F11 (Coagulation factor XI)
D69N (p.Asp69Asn) in F11 (Coagulation factor XI) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- rs1219290117
- NCI-TCGA Cosmic COSV9925
- TOPMed rs1219290117
- gnomAD rs1219290117
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.72
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available