p.Thr12dup variant of RB1 (P06400)
p.Thr12dup in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr12dup variant details
- rs1471810016
- gnomAD 13-48303943-G-GCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 13.70
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available