P83R (p.Pro83Arg) variant of F8 (Coagulation factor VIII)
P83R (p.Pro83Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P83R (p.Pro83Arg) variant details
- p.Pro83Arg
- rs781974394
- ClinGen CA10568618
- ClinVar RCV002245391
- ClinVar RCV003896085
- Uncertain significance
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.92
- MetaLR 0.97
- MetaSVM 1.12
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20… (PMID 18184865)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)