R17R (p.Arg17Arg) variant of PCCA (P05165)
R17R (p.Arg17Arg) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- gnomAD 13-100089171-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.46
- Population evidence available
- Structural context available
- Literature evidence available