K55Q (p.Lys55Gln) variant of F8 (Coagulation factor VIII)
K55Q (p.Lys55Gln) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
K55Q (p.Lys55Gln) variant details
- p.Lys55Gln
- rs2072868724
- gnomAD X-154882162-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- CADD 2.75
- SIFT 0.06
- Most common in the 1KG:GIH population (allele frequency 0.0077)
- Structural context available
- Literature evidence available