K22R (p.Lys22Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
K22R (p.Lys22Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- rs2086622349
- gnomAD 3-10032299-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 2.15
- Population evidence available
- Structural context available
- Literature evidence available