R53H (p.Arg53His) variant of SERPINE1 (P05121)
R53H (p.Arg53His) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- ExAC rs764266756
- TOPMed rs764266756
- gnomAD rs764266756
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available