T8H (p.Thr8His) variant of SERPINE1 (P05121)
T8H (p.Thr8His) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T8H (p.Thr8His) variant details
- p.Thr8His
- gnomAD 7-101128413-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 20.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available