C9W (p.Cys9Trp) variant of SERPINE1 (P05121)
C9W (p.Cys9Trp) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C9W (p.Cys9Trp) variant details
- p.Cys9Trp
- gnomAD 7-101128420-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.66
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available