V62M (p.Val62Met) variant of SERPINE1 (P05121)
V62M (p.Val62Met) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V62M (p.Val62Met) variant details
- p.Val62Met
- 1000Genomes rs564909482
- ExAC rs564909482
- TOPMed rs564909482
- gnomAD rs564909482
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.11
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.09
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available