P29S (p.Pro29Ser) variant of RB1 (P06400)
P29S (p.Pro29Ser) in RB1 (P06400) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- gnomAD 13-48303990-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available