P21P (p.Pro21Pro) variant of RB1 (P06400)
P21P (p.Pro21Pro) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P21P (p.Pro21Pro) variant details
- p.Pro21Pro
- rs1313614748
- gnomAD 13-48303975-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.83
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available