T141M (p.Thr141Met) variant of F11 (Coagulation factor XI)
T141M (p.Thr141Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Plasma factor XI deficiency; Hereditary factor XI deficiency disease; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T141M (p.Thr141Met) variant details
- p.Thr141Met
- rs200593979
- ClinGen CA3163650
- cosmic curated COSV53009
- ClinVar RCV000670640
- Conflicting interpretations
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.87
- MetaSVM 0.92
- CADD 24.30
- ClinVar: Conflicting classifications of pathogenicity (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available