Q70H (p.Gln70His) variant of SERPINE1 (P05121)
Q70H (p.Gln70His) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q70H (p.Gln70His) variant details
- p.Gln70His
- ExAC rs748885714
- gnomAD rs748885714
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available