p.Pro29dup variant of RB1 (P06400)
p.Pro29dup in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro29dup variant details
- rs587778823
- gnomAD 13-48303978-A-ACC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 13.10
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available