S28S (p.Ser28Ser) variant of PCCA (P05165)
S28S (p.Ser28Ser) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs2046033793
- gnomAD 13-100089204-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Literature evidence available