L10F (p.Leu10Phe) variant of F10 (Coagulation factor X)
L10F (p.Leu10Phe) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs2142244681
- ClinGen CA388787303
- ClinVar RCV001420383
- Ensembl rs2142244681
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.78
- SIFT 0.01
- MutPred 0.36
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available