A28T (p.Ala28Thr) variant of F5 (Coagulation factor V)
A28T (p.Ala28Thr) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- 1000Genomes rs571083332
- ExAC rs571083332
- gnomAD rs571083332
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.54
- AlphaMissense 0.82
- MetaLR 0.12
- MetaSVM -1.00
- CADD 23.60
- PolyPhen-2 1.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available