S26S (p.Ser26Ser) variant of PURA (Q00577)
S26S (p.Ser26Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S26S (p.Ser26Ser) variant details
- p.Ser26Ser
- rs1156498095
- gnomAD 5-140114259-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 14.40
- Most common in the African/African-American population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available