H5Y (p.His5Tyr) variant of RAD21 (O60216)
H5Y (p.His5Tyr) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- TOPMed rs1047486234
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.72
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)