P29del (p.Pro29del) variant of RB1 (P06400)
P29del (p.Pro29del) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P29del (p.Pro29del) variant details
- rs1298675805
- gnomAD 13-48303976-GCAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available