D125H (p.Asp125His) variant of RAD21 (O60216)
D125H (p.Asp125His) 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 0.49 / 1. The record also includes population frequency data.
D125H (p.Asp125His) variant details
- p.Asp125His
- NCI-TCGA Cosmic COSV5206
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.22
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available