D217Y (p.Asp217Tyr) variant of RAD21 (O60216)
D217Y (p.Asp217Tyr) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
D217Y (p.Asp217Tyr) variant details
- p.Asp217Tyr
- gnomAD rs1158262020
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.49
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)