M68L (p.Met68Leu) variant of SERPINE1 (P05121)
M68L (p.Met68Leu) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M68L (p.Met68Leu) variant details
- p.Met68Leu
- gnomAD 7-101128595-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.69
- MetaLR 0.52
- MetaSVM 0.07
- CADD 25.90
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available