H42P (p.His42Pro) variant of F7 (Coagulation factor VII)
H42P (p.His42Pro) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H42P (p.His42Pro) variant details
- p.His42Pro
- rs1446422994
- gnomAD 13-113110714-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.27
- MetaLR 0.65
- MetaSVM -0.11
- CADD 17.20
- PolyPhen-2 0.56
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available