V42L (p.Val42Leu) variant of SERPINE1 (P05121)
V42L (p.Val42Leu) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- ExAC rs775950945
- gnomAD rs775950945
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available