T60S (p.Thr60Ser) variant of F11 (Coagulation factor XI)
T60S (p.Thr60Ser) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- ExAC rs768158918
- gnomAD rs768158918
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.47
- MetaSVM -0.56
- CADD 15.76
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available