R2102H (p.Arg2102His) variant of F5 (Coagulation factor V)
R2102H (p.Arg2102His) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R2102H (p.Arg2102His) variant details
- p.Arg2102His
- rs1659211726
- UniProt VAR 017329
- TOPMed rs1659211726
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital factor V deficiency)
- EBI: Pathogenic (in THPH2)
- UniProt: Pathogenic (in THPH2)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. (PMID 11858490)
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)