R3C (p.Arg3Cys) variant of F10 (Coagulation factor X)
R3C (p.Arg3Cys) 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 Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs149972574
- ClinGen CA7060306
- ClinVar RCV000351469
- 1000Genomes rs149972574
- Uncertain significance
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.12
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary factor X deficiency disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available