R30R (p.Arg30Arg) variant of PANK2 (Q9BZ23)
R30R (p.Arg30Arg) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- gnomAD 20-3889514-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available