H36L (p.His36Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
H36L (p.His36Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H36L (p.His36Leu) variant details
- p.His36Leu
- gnomAD 3-10032320-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 1.32
- Population evidence available
- Structural context available
- Literature evidence available