R32R (p.Arg32Arg) variant of PCCA (P05165)
R32R (p.Arg32Arg) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- rs2152190089
- gnomAD 13-100089214-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available