P165S (p.Pro165Ser) variant of F8 (Coagulation factor VIII)
P165S (p.Pro165Ser) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P165S (p.Pro165Ser) variant details
- p.Pro165Ser
- rs137852393
- ClinGen CA255065
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010889
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.93
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important… (PMID 32166871)
- Cited in: Characterization of genetic defects of hemophilia A in patients of Chinese origin. (PMID 8307558)