p.Ala17 Ala18del variant of RB1 (P06400)
p.Ala17 Ala18del in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala17 Ala18del variant details
- gnomAD 13-48303957-TGCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available