A23del (p.Ala23del) variant of SERPINE1 (P05121)
A23del (p.Ala23del) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A23del (p.Ala23del) variant details
- rs1796150695
- gnomAD 7-101128457-TCTG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available