V104I (p.Val104Ile) variant of F8 (Coagulation factor VIII)
V104I (p.Val104Ile) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V104I (p.Val104Ile) variant details
- p.Val104Ile
- TOPMed rs2073621440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.32
- MetaLR 0.81
- MetaSVM 0.35
- CADD 15.90
- PolyPhen-2 0.14
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available