A18del (p.Ala18del) variant of RB1 (P06400)
A18del (p.Ala18del) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A18del (p.Ala18del) variant details
- gnomAD 13-48303946-ACCG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 9.71
- Population evidence available
- Structural context available
- Literature evidence available