G7G (p.Gly7Gly) variant of PCCA (P05165)
G7G (p.Gly7Gly) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G7G (p.Gly7Gly) variant details
- p.Gly7Gly
- rs1410571475
- gnomAD 13-100089141-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.51
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available