A6S (p.Ala6Ser) variant of SERPINE1 (P05121)
A6S (p.Ala6Ser) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 7-101128409-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.19
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available