p.Thr12 Ala17del variant of RB1 (P06400)
p.Thr12 Ala17del in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr12 Ala17del variant details
- rs1481932082
- gnomAD 13-48303937-ACGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 15.70
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available