L69V (p.Leu69Val) variant of SERPINE1 (P05121)
L69V (p.Leu69Val) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- ExAC rs772860311
- TOPMed rs772860311
- gnomAD rs772860311
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.45
- CADD 21.00
- PolyPhen-2 0.82
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available