H36Q (p.His36Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
H36Q (p.His36Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD 3-10032321-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 1.04
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available
- Literature evidence available