A22A (p.Ala22Ala) variant of RB1 (P06400)
A22A (p.Ala22Ala) 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.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1014225642
- gnomAD 13-48303978-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 5.74
- Population evidence available
- Structural context available
- Literature evidence available