V40M (p.Val40Met) variant of SERPINE1 (P05121)
V40M (p.Val40Met) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- gnomAD 7-101128511-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.29
- CADD 17.10
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available