L7L (p.Leu7Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
L7L (p.Leu7Leu) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs751175161
- gnomAD 3-10028676-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 7.68
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available