V64M (p.Val64Met) variant of F8 (Coagulation factor VIII)
V64M (p.Val64Met) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V64M (p.Val64Met) variant details
- p.Val64Met
- rs187738612
- ClinGen CA10568625
- ClinVar RCV002246522
- ClinVar RCV005232665
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.36
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.021)
- Structural context available