L272P (p.Leu272Pro) variant of F10 (Coagulation factor X)
L272P (p.Leu272Pro) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
L272P (p.Leu272Pro) variant details
- p.Leu272Pro
- rs2036592550
- ClinGen CA388791149
- ClinVar RCV003990425
- Ensembl rs2036592550
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available