P6P (p.Pro6Pro) variant of RB1 (P06400)
P6P (p.Pro6Pro) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs1017683562
- gnomAD 13-48303930-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available