V46A (p.Val46Ala) variant of SERPINE1 (P05121)
V46A (p.Val46Ala) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- TOPMed rs1174856192
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.15
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available