L14V (p.Leu14Val) variant of SERPINE1 (P05121)
L14V (p.Leu14Val) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 7-101128433-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.76
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available