P20P (p.Pro20Pro) variant of RB1 (P06400)
P20P (p.Pro20Pro) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P20P (p.Pro20Pro) variant details
- p.Pro20Pro
- rs777340111
- gnomAD 13-48303972-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 10.40
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available