A15A (p.Ala15Ala) variant of RB1 (P06400)
A15A (p.Ala15Ala) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- rs1593412047
- gnomAD 13-48303957-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.96
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available