R3R (p.Arg3Arg) variant of PANK2 (Q9BZ23)
R3R (p.Arg3Arg) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- gnomAD 20-3889107-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 7.85
- Most common in the African/African-American population (allele frequency 9.5e-05)
- Structural context available
- Literature evidence available