R10R (p.Arg10Arg) variant of PANK2 (Q9BZ23)
R10R (p.Arg10Arg) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- rs541722188
- gnomAD 20-3889130-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 8.86
- Population evidence available
- Structural context available
- Literature evidence available