H36Y (p.His36Tyr) variant of FANCD2 (Fanconi anemia group D2 protein)
H36Y (p.His36Tyr) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- gnomAD rs2086637163
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 7.97
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available