D123Y (p.Asp123Tyr) variant of RAD21 (O60216)
D123Y (p.Asp123Tyr) in RAD21 (O60216) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
D123Y (p.Asp123Tyr) variant details
- p.Asp123Tyr
- NCI-TCGA Cosmic COSV5206
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.68
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available