V64G (p.Val64Gly) variant of F8 (Coagulation factor VIII)
V64G (p.Val64Gly) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V64G (p.Val64Gly) variant details
- p.Val64Gly
- 1000Genomes rs138980898
- ESP rs138980898
- ExAC rs138980898
- TOPMed rs138980898
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.59
- MetaLR 0.91
- MetaSVM 0.72
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.025)
- Structural context available