Q2P (p.Gln2Pro) variant of F8 (Coagulation factor VIII)
Q2P (p.Gln2Pro) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- TOPMed rs1173458128
- gnomAD rs1173458128
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.44
- MetaLR 0.93
- MetaSVM 0.69
- CADD 16.80
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available