P78T (p.Pro78Thr) variant of F5 (Coagulation factor V)
P78T (p.Pro78Thr) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- TOPMed rs1257200126
- gnomAD rs1257200126
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available