A6D (p.Ala6Asp) variant of SERPINE1 (P05121)
A6D (p.Ala6Asp) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 7-101128410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.41
- CADD 5.83
- PolyPhen-2 0.05
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available