Y125C (p.Tyr125Cys) variant of F11 (Coagulation factor XI)
Y125C (p.Tyr125Cys) 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 Hereditary factor XI deficiency disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y125C (p.Tyr125Cys) variant details
- p.Tyr125Cys
- rs1554082187
- ClinGen CA358958500
- ClinVar RCV000666448
- ClinVar RCV005240423
- Uncertain significance
- Hereditary factor XI deficiency disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.22
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available