L129P (p.Leu129Pro) variant of F5 (Coagulation factor V)
L129P (p.Leu129Pro) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L129P (p.Leu129Pro) variant details
- p.Leu129Pro
- gnomAD rs1660460346
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.27
- CADD 3.69
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available