P400L (p.Pro400Leu) variant of F11 (Coagulation factor XI)
P400L (p.Pro400Leu) 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 Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P400L (p.Pro400Leu) variant details
- p.Pro400Leu
- rs533335580
- ClinGen CA3163918
- ClinVar RCV000428449
- ClinVar RCV000851667
- Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.48
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Plasma factor XI deficiency; not provided; Hereditary factor XI)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available