A18A (p.Ala18Ala) variant of RB1 (P06400)
A18A (p.Ala18Ala) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs2138027406
- gnomAD 13-48303966-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 8.89
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available