p.Ala16 Ala18del variant of RB1 (P06400)
p.Ala16 Ala18del in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala16 Ala18del variant details
- rs572454921
- gnomAD 13-48303948-CGCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual… (PMID 24728327)