D123H (p.Asp123His) variant of RAD21 (O60216)
D123H (p.Asp123His) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
D123H (p.Asp123His) variant details
- p.Asp123His
- ExAC rs775698541
- gnomAD rs775698541
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.61
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available