A17A (p.Ala17Ala) variant of RB1 (P06400)
A17A (p.Ala17Ala) in RB1 (P06400) is a synonymous 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.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs1593412073
- gnomAD 13-48303963-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 8.37
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available