H42Q (p.His42Gln) variant of F7 (Coagulation factor VII)
H42Q (p.His42Gln) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
H42Q (p.His42Gln) variant details
- p.His42Gln
- rs747374204
- gnomAD 13-113106906-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- CADD 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available