S30S (p.Ser30Ser) variant of CNTNAP2 (Q9UHC6)
S30S (p.Ser30Ser) in CNTNAP2 (Q9UHC6) 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.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs572889297
- gnomAD 7-146116966-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 10.70
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Literature evidence available