L28L (p.Leu28Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
L28L (p.Leu28Leu) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- rs1325432713
- gnomAD 3-10032315-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 0.53
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available