P28H (p.Pro28His) variant of SERPINE1 (P05121)
P28H (p.Pro28His) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- gnomAD 7-101128471-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available