G21R (p.Gly21Arg) variant of F10 (Coagulation factor X)
G21R (p.Gly21Arg) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs753790195
- ClinGen CA7060320
- ClinVar RCV000012838
- ClinVar RCV002284169
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.23
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00031)
- Structural context available
- Cited in: Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. (PMID 1939653)
- Cited in: Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but… (PMID 8449937)