K68N (p.Lys68Asn) variant of F9 (Coagulation factor IX)
K68N (p.Lys68Asn) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K68N (p.Lys68Asn) variant details
- p.Lys68Asn
- gnomAD X-139537125-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- MetaLR 0.93
- MetaSVM 0.90
- CADD 15.30
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available