R48R (p.Arg48Arg) variant of PDE6B (P35913)
R48R (p.Arg48Arg) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- rs145067855
- gnomAD 4-625770-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.12
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available