N90K (p.Asn90Lys) variant of F11 (Coagulation factor XI)
N90K (p.Asn90Lys) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N90K (p.Asn90Lys) variant details
- p.Asn90Lys
- ESP rs374703864
- ExAC rs374703864
- TOPMed rs374703864
- gnomAD rs374703864
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.39
- MetaSVM -0.76
- CADD 1.22
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available