H42T (p.His42Thr) variant of F7 (Coagulation factor VII)
H42T (p.His42Thr) in F7 (Coagulation factor VII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H42T (p.His42Thr) variant details
- p.His42Thr
- gnomAD 13-113110710-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available