K34N (p.Lys34Asn) variant of FANCD2 (Fanconi anemia group D2 protein)
K34N (p.Lys34Asn) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- gnomAD 3-10032866-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 23.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available