E69K (p.Glu69Lys) variant of F10 (Coagulation factor X)
E69K (p.Glu69Lys) 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 Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- rs1325135019
- ClinGen CA388787689
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- Likely pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor X deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available