A10A (p.Ala10Ala) variant of RB1 (P06400)
A10A (p.Ala10Ala) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A10A (p.Ala10Ala) variant details
- p.Ala10Ala
- rs530961288
- gnomAD 13-48303942-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 9.76
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available