K8K (p.Lys8Lys) variant of RB1 (P06400)
K8K (p.Lys8Lys) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- gnomAD 13-48303936-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available