K22Q (p.Lys22Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
K22Q (p.Lys22Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- ExAC rs774743051
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available