L28H (p.Leu28His) variant of FANCD2 (Fanconi anemia group D2 protein)
L28H (p.Leu28His) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and published literature.
L28H (p.Leu28His) variant details
- p.Leu28His
- rs2086622668
- gnomAD 3-10032314-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 3.42
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available