P2P (p.Pro2Pro) variant of RB1 (P06400)
P2P (p.Pro2Pro) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P2P (p.Pro2Pro) variant details
- p.Pro2Pro
- rs1593411898
- gnomAD 13-48303918-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available