A36E (p.Ala36Glu) variant of F10 (Coagulation factor X)
A36E (p.Ala36Glu) 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 0.16 / 1. The record also includes population frequency data and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- rs2036405879
- ClinGen CA388787473
- ClinVar RCV001420414
- Ensembl rs2036405879
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.22
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available