M120T (p.Met120Thr) variant of F11 (Coagulation factor XI)
M120T (p.Met120Thr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
M120T (p.Met120Thr) variant details
- p.Met120Thr
- rs767727775
- ClinGen CA3163642
- ClinVar RCV000851646
- ExAC rs767727775
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.80
- MetaLR 0.74
- MetaSVM 0.61
- PolyPhen-2 0.59
- SIFT 0.00
- EVE 0.49
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available