H36P (p.His36Pro) variant of FANCD2 (Fanconi anemia group D2 protein)
H36P (p.His36Pro) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- gnomAD 3-10032874-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 3.88
- PolyPhen-2 0.18
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Literature evidence available