V100I (p.Val100Ile) variant of F5 (Coagulation factor V)
V100I (p.Val100Ile) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V100I (p.Val100Ile) variant details
- p.Val100Ile
- gnomAD rs1305895983
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.45
- AlphaMissense 0.40
- MetaLR 0.53
- MetaSVM 0.29
- CADD 16.90
- PolyPhen-2 0.17
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available